ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.3486G>T (p.Arg1162Ser)

dbSNP: rs2016767710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245421 SCV002515665 likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss criteria provided, single submitter clinical testing

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