ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.2714G>A (p.Arg905His)

gnomAD frequency: 0.00004  dbSNP: rs727503289
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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 RCV000151340 SCV000199314 uncertain significance not specified 2014-03-15 criteria provided, single submitter clinical testing The Arg905His variant in MYH9 has not been previously reported in individuals wi th hearing loss or in large population studies. Computational prediction tools d o not provide strong support for or against an impact to the protein. In summary , additional information is needed to fully assess the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics RCV000765635 SCV000896963 uncertain significance Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2022-04-12 criteria provided, single submitter clinical testing
Invitae RCV002516039 SCV003444484 likely benign not provided 2022-07-06 criteria provided, single submitter clinical testing

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