ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5332+20C>A (rs1057521961)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437260 SCV000525287 likely benign not specified 2016-03-02 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 RCV000637998 SCV000759478 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-19 criteria provided, single submitter clinical testing
Color Health, Inc RCV000775916 SCV000910404 likely benign Hereditary cancer-predisposing syndrome 2018-02-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353917 SCV000591614 uncertain significance not provided no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV001073067 SCV001238559 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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