ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln)

dbSNP: rs762258197
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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 RCV000851838 SCV000899839 likely pathogenic Gray platelet syndrome 2020-03-01 criteria provided, single submitter research ACMG criteria: PM2, PM3, PP1_supporting, PP3, PP4, PS4_supporting

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