ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.765G>C (p.Gln255His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003337133 SCV004045288 likely pathogenic Familial cancer of breast 2023-05-31 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 24573678]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 16116423].

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