ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) (rs11571747)

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Total submissions: 27
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034464 SCV000602794 likely benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131022 SCV000185950 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034464 SCV000043231 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000031751 SCV000147403 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000735613 SCV000219411 likely benign Breast and/or ovarian cancer 2015-10-08 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152885 SCV000586982 benign not specified 2017-04-19 criteria provided, single submitter clinical testing
Color RCV000131022 SCV000683983 likely benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Counsyl RCV000031751 SCV000154095 likely benign Breast-ovarian cancer, familial 2 2014-04-08 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031751 SCV000744542 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152885 SCV000592209 benign not specified 2012-03-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031751 SCV000733319 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152885 SCV000202304 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735613 SCV000863751 uncertain significance Breast and/or ovarian cancer 2001-08-16 no assertion criteria provided clinical testing
GeneDx RCV000152885 SCV000167412 benign not specified 2014-01-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031751 SCV000743349 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371112 SCV000383788 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000167825 SCV000383789 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000167825 SCV000267847 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000131022 SCV000747808 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167825 SCV000494364 benign Hereditary breast and ovarian cancer syndrome 2014-09-29 criteria provided, single submitter clinical testing
Invitae RCV000167825 SCV000073571 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152885 SCV000538491 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: 10 labs classify as LB/Ben; ExAC: 0.1% (94/66682) European chromosomes
Michigan Medical Genetics Laboratories,University of Michigan RCV000031751 SCV000196016 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000031751 SCV000207353 likely benign Breast-ovarian cancer, familial 2 2014-11-06 no assertion criteria provided clinical testing
PreventionGenetics RCV000034464 SCV000805782 likely benign not provided 2017-08-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031751 SCV000054359 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000131022 SCV000787955 likely benign Hereditary cancer-predisposing syndrome 2017-08-14 no assertion criteria provided clinical testing

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