ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1166C>T (p.Pro389Leu) (rs397507263)

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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 RCV000571104 SCV000661187 likely benign Hereditary cancer-predisposing syndrome 2016-08-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Color RCV000571104 SCV000903277 benign Hereditary cancer-predisposing syndrome 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000439294 SCV000516030 likely benign not specified 2018-02-22 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.
Integrated Genetics/Laboratory Corporation of America RCV000589187 SCV000694514 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing
Invitae RCV000197166 SCV000252995 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000439294 SCV000600470 uncertain significance not specified 2016-08-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031308 SCV000053913 benign Breast-ovarian cancer, familial 2 2012-05-31 no assertion criteria provided clinical testing

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