ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2459A>G (p.Asp820Gly) (rs80358511)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130196 SCV000185033 likely benign Hereditary cancer-predisposing syndrome 2017-02-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077279 SCV000146052 uncertain significance Breast-ovarian cancer, familial 2 2001-02-16 no assertion criteria provided clinical testing
Color RCV000130196 SCV000688758 likely benign Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000077279 SCV000488788 uncertain significance Breast-ovarian cancer, familial 2 2016-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000435008 SCV000512346 likely benign not specified 2018-02-02 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 RCV000044000 SCV000072013 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-11 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077279 SCV000109076 likely benign Breast-ovarian cancer, familial 2 2011-04-08 no assertion criteria provided clinical testing

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