ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.680A>G (p.Asp227Gly)

dbSNP: rs1842309816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772639 SCV001993224 uncertain significance not provided 2020-05-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Medical Molecular Genetics Department, National Research Center RCV004698551 SCV005184323 uncertain significance Hearing loss, autosomal dominant 90 2024-01-02 criteria provided, single submitter clinical testing PM2,PP3

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