ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)

gnomAD frequency: 0.00033  dbSNP: rs368682932
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000261880 SCV000340854 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing
Invitae RCV000261880 SCV002400883 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000261880 SCV004031980 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477889 SCV000536770 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2015-09-23 no assertion criteria provided research

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