ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) (rs80359228)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129724 SCV000184529 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031834 SCV000147670 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148420 SCV000190119 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research
Color RCV000129724 SCV000902714 benign Hereditary cancer-predisposing syndrome 2016-07-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045862 SCV000592294 benign not specified 2014-08-20 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735631 SCV000863769 uncertain significance Breast and/or ovarian cancer 2003-02-11 no assertion criteria provided clinical testing
GeneDx RCV000045862 SCV000210690 likely benign not specified 2017-08-23 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.
Integrated Genetics/Laboratory Corporation of America RCV000586984 SCV000695254 likely benign not provided 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000195339 SCV000073875 benign Hereditary breast and ovarian cancer syndrome 2017-12-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000045862 SCV000538501 uncertain significance not specified 2016-08-11 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: Reported in 1 male breast cancer patient - multiple other publications report as nonpathogenic; ClinVar: 5 B/LB, 1 VUS
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000045862 SCV000600869 likely benign not specified 2017-05-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031834 SCV000054442 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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