ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9262G>A (p.Ala3088Thr)

dbSNP: rs730881569
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160166 SCV000210501 uncertain significance not provided 2019-04-30 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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