ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2829C>A (p.Val943=) (rs767164240)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000371244 SCV000404582 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260325 SCV000404583 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572116 SCV000661565 likely benign Hereditary cancer-predisposing syndrome 2016-10-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000604455 SCV000718625 likely benign not specified 2017-04-19 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.
Invitae RCV000636193 SCV000757625 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing

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