ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.495A>T (p.Glu165Asp)

dbSNP: rs780024960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776609 SCV002013282 uncertain significance not provided 2021-05-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with breast cancer (Kwong 2020); This variant is associated with the following publications: (PMID: 32068069)

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