ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.4946A>G (p.Asp1649Gly)

dbSNP: rs1603482754
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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 RCV000790346 SCV000891139 uncertain significance MYH9-related disorder 2018-12-12 criteria provided, single submitter research PM2, PP3, PP1
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851804 SCV000899772 uncertain significance Thrombocytopenia 2019-02-01 criteria provided, single submitter research

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