ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4779A>C (p.Glu1593Asp) (rs80358703)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129760 SCV000184567 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034442 SCV000043210 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113341 SCV000146480 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000129760 SCV000910667 benign Hereditary cancer-predisposing syndrome 2016-09-26 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120321 SCV000591926 benign not specified 2014-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000120321 SCV000210609 likely benign not specified 2017-12-19 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 RCV000120321 SCV000084473 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000044491 SCV000072504 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113341 SCV000297529 benign Breast-ovarian cancer, familial 2 2010-09-13 no assertion criteria provided clinical testing

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