ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.607dup (p.Ile203fs)

dbSNP: rs1575592157
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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 RCV000852171 SCV000899827 pathogenic Gray platelet syndrome 2020-03-01 criteria provided, single submitter research ACMG criteria: PVS1, PM2, PM3, PP4

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