ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.1056C>T (p.Ile352=)

dbSNP: rs727504861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156216 SCV000205932 likely benign not specified 2013-12-12 criteria provided, single submitter clinical testing Ile352Ile in exon 10 of MYH9: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV000919506 SCV001064852 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498764 SCV002809110 likely benign Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2021-12-16 criteria provided, single submitter clinical testing

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