ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6362A>G (p.Glu2121Gly) (rs397507846)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564377 SCV000665009 likely benign Hereditary cancer-predisposing syndrome 2018-02-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
Color RCV000564377 SCV000906135 likely benign Hereditary cancer-predisposing syndrome 2018-04-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000428649 SCV000592046 uncertain significance not specified 2014-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000428649 SCV000515408 likely benign not specified 2017-06-16 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.
Invitae RCV000044924 SCV000072937 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083126 SCV000115200 likely benign Breast-ovarian cancer, familial 2 2012-05-31 no assertion criteria provided clinical testing

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