ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1700A>G (p.Lys567Arg)

dbSNP: rs2145094607
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776424 SCV002012970 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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