ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.317-12G>A (rs81002841)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044137 SCV000072150 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000212205 SCV000210542 benign not specified 2014-10-08 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.
Color RCV000584045 SCV000688789 likely benign Hereditary cancer-predisposing syndrome 2017-10-29 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113404 SCV000146575 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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