ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs)

dbSNP: rs1603482653
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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 RCV000790362 SCV000891155 pathogenic MYH9-related disorder 2018-12-12 criteria provided, single submitter research PS4, #PM4, PM2, PM1, PP4

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