ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr) (rs80359038)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045391 SCV000073404 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129443 SCV000184213 likely benign Hereditary cancer-predisposing syndrome 2016-08-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s)
GeneDx RCV000212268 SCV000210665 likely benign not specified 2016-07-06 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.
Counsyl RCV000031718 SCV000488630 likely benign Breast-ovarian cancer, familial 2 2016-05-10 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212268 SCV000592172 uncertain significance not specified 2013-11-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212268 SCV000600778 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing
Color RCV000129443 SCV000903868 benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031718 SCV000054325 benign Breast-ovarian cancer, familial 2 2010-02-05 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031718 SCV000147251 uncertain significance Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing

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