ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.720C>T (p.Arg240=)

gnomAD frequency: 0.00001  dbSNP: rs556214390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242833 SCV000309091 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000827578 SCV000969231 likely benign not provided 2018-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics RCV002500897 SCV002810588 likely benign Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2021-08-06 criteria provided, single submitter clinical testing
Invitae RCV000827578 SCV004462716 benign not provided 2023-09-12 criteria provided, single submitter clinical testing

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