ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.152G>C (p.Gly51Ala)

dbSNP: rs960787663
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001759120 SCV002006792 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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