ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg)

dbSNP: rs1567648703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761532 SCV000891668 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2017-12-30 criteria provided, single submitter curation
GeneDx RCV001766593 SCV001991161 uncertain significance not provided 2021-03-05 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

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