ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)

dbSNP: rs781366964
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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 RCV001261917 SCV001439247 pathogenic Gray platelet syndrome 2020-03-01 criteria provided, single submitter research ACMG criteria: PVS1, PM2, PM3, PP4

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