ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.2033C>T (p.Pro678Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003831037 SCV004634185 benign not provided 2023-09-06 criteria provided, single submitter clinical testing
GeneDx RCV003831037 SCV005377606 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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