ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val)

gnomAD frequency: 0.00050  dbSNP: rs201174456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889844 SCV001033552 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501455 SCV002806399 likely benign Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2021-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000889844 SCV003929911 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing 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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