ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu)

dbSNP: rs1603482935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000790343 SCV000891136 uncertain significance MYH9-related disorder 2018-12-12 criteria provided, single submitter research PM2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245638 SCV002515494 uncertain significance Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss no assertion criteria provided research

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