ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.2668del (p.Gln890fs)

dbSNP: rs1603483058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000790340 SCV000891133 likely pathogenic MYH9-related disorder 2018-12-12 criteria provided, single submitter research PM2, PVS1, PP4

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