ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) (rs55775473)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679198 SCV000885102 likely benign not provided 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131495 SCV000186484 likely benign Hereditary cancer-predisposing syndrome 2017-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Co-occurence with mutation in same gene (phase unknown)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031840 SCV000147681 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131495 SCV000902738 benign Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing
Counsyl RCV000031840 SCV000220768 likely benign Breast-ovarian cancer, familial 2 2014-10-03 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120372 SCV000592298 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120372 SCV000859229 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000120372 SCV000108649 likely benign not specified 2018-01-16 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.
ITMI RCV000120372 SCV000084524 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000045870 SCV000073883 benign Hereditary breast and ovarian cancer syndrome 2017-12-20 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031840 SCV000196028 likely benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679198 SCV000805797 likely benign not provided 2017-07-11 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031840 SCV000054448 uncertain significance Breast-ovarian cancer, familial 2 2008-03-24 no assertion criteria provided clinical testing

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