Full data view for gene BARD1

Information The variants shown are described using the NM_000465.3 transcript reference sequence.

128 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
-/- 5'UTR c.-48T>C p.(=) Not specified no r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 6-dec-2019 IACA Panel (ATM, BRCA1, BRCA2, BARD1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-48T>C p.(=) Not specified no r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-48T>C p.(=) Not specified no r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-48T>C p.(=) Homo no r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-48T>C p.(=) Hetero no r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-48T>C p.(=) Hetero no r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-48T>C p.(=) Hetero BRCA2 r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-48T>C p.(=) Homo no r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-48T>C p.(=) Hetero no r.(=) - Unknown g.214809617A>G - BARD1_000013 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 5'UTR c.-30G>C p.(=) Not specified no r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 6-dec-2019 IACA Panel (ATM, BRCA1, BRCA2, BARD1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-30G>C p.(=) Not specified no r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-30G>C p.(=) Not specified no r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-30G>C p.(=) Homo no r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-30G>C p.(=) Hetero no r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-30G>C p.(=) Hetero no r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-30G>C p.(=) Hetero BRCA2 r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-30G>C p.(=) Homo no r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 5'UTR c.-30G>C p.(=) Hetero no r.(=) - Unknown g.214809599C>G - BARD1_000014 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
?/? 1 c.43C>A p.(Arg15Ser) Hetero no r.(?) - Unknown g.214809527G>T - BARD1_000024 - - DNA SEQ-NG 03-dec-2020 Genda Panel (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel Breast cancer Italian; Basque - - Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA SEQ-NG 20-apr-2017 Dasa Genómica - Genia, INVITAE Invitae Breast Cancer Panel Multigenetic panel Breast cancer Syrian-Sephardic-Polish-Ashkenazi - - Breast cancer 1 Lina Nuñez-Private Practice
-/-? 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - - - 1 Dolores Mansilla-Instituto Roffo
-?/- 1 c.70C>T p.(Pro24Ser) Not specified no r.(?) RECLASSIFIED JULY 2020 Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.70C>T p.(Pro24Ser) Not specified no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.70C>T p.(Pro24Ser) Not specified ATM r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 27-dec-2019 IACA - Multigenetic panel Breast cancer, Schwanoma Italian - (antec ambos/explica cuadro) Breast cancer, Melanoma 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 26-feb-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Italian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 1 c.70C>T p.(Pro24Ser) Homo no r.(?) - Unknown g.214809500G>A - BARD1_000004 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
?/? 1 c.119C>T p.(Ala40Val) Hetero no r.(?) - Unknown g.214809451G>A - BARD1_000005 - - DNA SEQ-NG, CNV 10-aug-2017 Genesia - Progenitest, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Spanish - - - 1 Vanesa Lotersztein-Genesia/Progenitest
-?/-? 1i c.158+1590C>A p.(=) Not specified no r.(=) - Unknown g.214807822G>T - BARD1_000012 - - DNA CNV, SEQ-NG 6-dec-2019 IACA Panel (ATM, BRCA1, BRCA2, BARD1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 1i c.158+1590C>A p.(=) Not specified no r.(=) - Unknown g.214807822G>T - BARD1_000012 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 1i c.158+1590C>A p.(=) Homo no r.(=) - Unknown g.214807822G>T - BARD1_000012 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 1i c.158+1590C>A p.(=) Hetero no r.(=) - Unknown g.214807822G>T - BARD1_000012 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 1i c.158+1590C>A p.(=) Hetero no r.(=) - Unknown g.214807822G>T - BARD1_000012 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 1i c.158+1590C>A p.(=) Hetero BRCA2 r.(=) - Unknown g.214807822G>T - BARD1_000012 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 1i c.158+1590C>A p.(=) Homo no r.(=) - Unknown g.214807822G>T - BARD1_000012 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 1i c.158+1590C>A p.(=) Hetero no r.(=) - Unknown g.214807822G>T - BARD1_000012 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
?/? 2 c.160A>G p.(Thr54Ala) Hetero PALB2 r.(160a>g) - Unknown g.214797116T>C - BARD1_000032 rs200254470 - DNA SEQ-NG 11-nov-2021 Hospital Privado Centro Médico de Córdoba Panel Cancer de pancreas (23 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, CDKN2A, CDK4, EPCAM, FANCC, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PMS2, SMAD4, STK11, TP53, TSC1, TSC2, VHL Multigenetic panel -- Italian - - - 1 Claudia Martin-Hospital de Córdoba
?/? 4 c.407C>T p.(Ala136Val) Hetero no r.(407c>u) - Unknown g.214781467G>A - BARD1_000029 - - DNA SEQ-NG 24-aug-22 Fares Taie Panel Cancer mama-ovario (12 genes) ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53. Multigenetic panel Breast cancer Uruguayan/Spanish - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
+/+ 4 c.448C>T p.(Arg150*) Hetero N/A r.(448c>u) - Unknown g.214781426G>A - BARD1_000033 rs730881411 - DNA SEQ-NG 19-01-23 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel Breast cancer unknown - - Breast cancer 1 Emilia Maldonado-Hospital de Córdoba
?/? 4 c.575C>A p.(Ser192Tyr) Hetero no r.(575c>a) - Unknown g.214781299G>T - BARD1_000036 rs587782482 - DNA SEQ-NG, CNV 28-nov-2023 Dasa Genómica - Genia Hereditary cancer panel (144 genes) Multigenetic panel Melanoma Greek/Egypt - Italian/French - - Colon cancer, Melanoma 1 Pablo Kalfayan-Hospital Italiano
-?/- 4 c.609A>C p.(=) Not specified no r.(=) RECLASSIFIED JULY 2022 Unknown g.214781265T>G - BARD1_000016 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
?/? 4 c.644A>G p.(Asn215Ser) Hetero MUTYH;NBN r.(644a>g) - Unknown g.214781230T>C - BARD1_000027 - - DNA SEQ-NG 23-aug-2021 Hospital Universitario Austral Panel (30 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2*, EPCAM*, APC, MUTYH, MITF*, BAP1, CDKN2A, CDK4*, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1*, POLD1*, POLE*, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C, RAD51D Multigenetic panel -- Italian - - - 1 Maria Constanza Vallone-Hospital Austral
-/-? 4 c.1053G>C p.(=) Hetero no r.(=) Reclassified June 2019 Unknown g.214780821C>G - BARD1_000001 - - DNA SEQ-NG 20-apr-2017 Dasa Genómica - Genia, INVITAE Invitae Breast Cancer Panel Multigenetic panel Breast cancer Syrian-Sephardic-Polish-Ashkenazi - - Breast cancer 1 Lina Nuñez-Private Practice
-?/- 4 c.1053G>C p.(=) Not specified no r.(=) RECLASSIFIED JULY 2020 Unknown g.214780821C>G - BARD1_000001 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.1053G>C p.(=) Hetero no r.(=) - Unknown g.214780821C>G - BARD1_000001 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1053G>C p.(=) Homo no r.(=) - Unknown g.214780821C>G - BARD1_000001 - - DNA CNV, SEQ-NG 4-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanis-Ashkenazi - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1053G>C p.(=) Hetero no r.(=) - Unknown g.214780821C>G - BARD1_000001 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1053G>C p.(=) Hetero no r.(=) - Unknown g.214780821C>G - BARD1_000001 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1053G>C p.(=) Hetero no r.(=) - Unknown g.214780821C>G - BARD1_000001 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
?/? 4 c.1099T>A p.(Ser367Thr) Hetero no r.(?) - Unknown g.214780775A>T - BARD1_000018 - - DNA CNV, SEQ-NG 2-jan-2020 Color (deriv. Genda) Hereditary Cancer Risk Test (30 genes) Multigenetic panel Breast cancer, Lung cancer French-Basque - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) RECLASSIFIED JUNE 2019 Unknown g.214780740C>G - BARD1_000002 - - DNA SEQ-NG 20-apr-2017 Dasa Genómica - Genia, INVITAE Invitae Breast Cancer Panel Multigenetic panel Breast cancer Syrian-Sephardic-Polish-Ashkenazi - - Breast cancer 1 Lina Nuñez-Private Practice
-/-? 4 c.1134G>C p.(Arg378Ser) Homo no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - - - 1 Dolores Mansilla-Instituto Roffo
-/- 4 c.1134G>C p.(Arg378Ser) Not specified no r.(?) RECLASSIFIED JULY 2020 Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 6-dec-2019 IACA Panel (ATM, BRCA1, BRCA2, BARD1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Not specified no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.1134G>C p.(Arg378Ser) Not specified no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Not specified no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Not specified ATM r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 27-dec-2019 IACA - Multigenetic panel Breast cancer, Schwanoma Italian - (antec ambos/explica cuadro) Breast cancer, Melanoma 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 26-feb-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Italian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Homo BRCA2 r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.1134G>C p.(Arg378Ser) Homo no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.1134G>C p.(Arg378Ser) Homo no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
./- 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) - Unknown g.214780740C>G - BARD1_000002 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
?/? 4 c.1247T>G p.(Leu416Arg) Hetero no r.(1247u>g) - Unknown g.214780627A>C - BARD1_000030 - - DNA SEQ-NG 12-09-22 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel Breast cancer Spanish/Unkown - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
-?/- 4i c.1314+29C>G p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022 Unknown g.214780531G>C - BARD1_000021 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 4i c.1315-1758A>G p.(=) Homo no r.(=) - Unknown g.214771070T>C - BARD1_000020 - - DNA CNV, SEQ-NG 4-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanis-Ashkenazi - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 4i c.1315-1758A>G p.(=) Hetero no r.(=) - Unknown g.214771070T>C - BARD1_000020 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 4i c.1315-1758A>G p.(=) Hetero no r.(=) - Unknown g.214771070T>C - BARD1_000020 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 4i c.1315-19G>A p.(=) Hetero no r.(=) - Unknown g.214769331C>T - BARD1_000008 - - DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - - - 1 Dolores Mansilla-Instituto Roffo
./- 4i c.1315-19G>A p.(=) Not specified no r.(=) - Unknown g.214769331C>T - BARD1_000008 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 4i c.1315-19G>A p.(=) Not specified no r.(=) - Unknown g.214769331C>T - BARD1_000008 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4i c.1315-19G>A p.(=) Not specified ATM r.(=) - Unknown g.214769331C>T - BARD1_000008 - - DNA CNV, SEQ-NG 27-dec-2019 IACA - Multigenetic panel Breast cancer, Schwanoma Italian - (antec ambos/explica cuadro) Breast cancer, Melanoma 1 Silvina Sisterna-Hospital de Comunidad
./- 4i c.1315-19G>A p.(=) Hetero no r.(=) - Unknown g.214769331C>T - BARD1_000008 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4i c.1315-19G>A p.(=) Hetero no r.(=) - Unknown g.214769331C>T - BARD1_000008 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4i c.1315-19G>A p.(=) Hetero no r.(=) - Unknown g.214769331C>T - BARD1_000008 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 4i c.1315-19G>A p.(=) Hetero no r.(=) - Unknown g.214769331C>T - BARD1_000008 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
?/? 5 c.1324C>T p.(Pro442Ser) Hetero no r.(1324c>u) - Unknown g.214769303G>A - BARD1_000031 - - DNA SEQ-NG 19-07-22 Genos/Color Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (P14ARF),CDKN2A (P16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel Breast cancer Italian-Argentinian/Spanish-Argentinian - - Breast cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 5 c.1339C>G p.(Leu447Val) Hetero N/A r.(?) - Unknown g.214769288G>C - BARD1_000006 - - DNA SEQ-NG 25-jul-2017 GENDA, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel Breast cancer Polish-Argentinian - - Breast cancer 1 Lina Nuñez-Private Practice
?/? 6 c.1409A>G (p.Asn470Ser) Hetero no r.(1409a>g) - Unknown g.214767641T>C - BARD1_000035 rs587781976 - DNA SEQ-NG 18-08-22 GENDA hereditary breast and gynecological cancer panel (36 genes) ABRAXAS1, AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PIK3CA, PMS2, POLD1, PTEN, RAD51C, RAD51D, RECQL, RINT1, SDHB, SDHD, SMARCA4, STK11, TP53, XRC22. Multigenetic panel Breast cancer Italian / Paraguaian - Argentinean - - Breast cancer 1 Yolanda Isabel Medina - Hospital Juan D. Perón
-/-? 6 c.1518T>C p.(=) Homo no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - - - 1 Dolores Mansilla-Instituto Roffo
-?/- 6 c.1518T>C p.(=) Not specified no r.(=) RECLASSIFIED JULY 2020 Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Not specified no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Not specified no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Not specified ATM r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 27-dec-2019 IACA - Multigenetic panel Breast cancer, Schwanoma Italian - (antec ambos/explica cuadro) Breast cancer, Melanoma 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Hetero no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 26-feb-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Italian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 6 c.1518T>C p.(=) Homo no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA SEQ-NG 25-sep-2019 CEMIC - Multigenetic panel - Argentinian - - - 1 Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
-/- 6 c.1518T>C p.(=) Hetero no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Hetero no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Homo no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 4-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanis-Ashkenazi - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Homo no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Homo no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Hetero BRCA2 r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.1518T>C p.(=) Homo no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 6 c.1518T>C p.(=) Hetero no r.(=) - Unknown g.214767532A>G - BARD1_000009 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
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