ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9501+4A>G (rs81002848)

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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 RCV000129324 SCV000184087 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s)
Breast Cancer Information Core (BIC) (BRCA2) RCV000114121 SCV000147653 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129324 SCV000906964 likely benign Hereditary cancer-predisposing syndrome 2018-05-16 criteria provided, single submitter clinical testing
Counsyl RCV000114121 SCV000488673 likely benign Breast-ovarian cancer, familial 2 2016-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000441376 SCV000512398 likely benign not specified 2018-03-12 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 RCV000045839 SCV000073852 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-11-16 criteria provided, single submitter clinical testing

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