ClinVar Miner

Submissions for variant NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)

dbSNP: rs121909752
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851693 SCV000899493 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222354 SCV002500884 likely pathogenic Bernard Soulier syndrome criteria provided, single submitter clinical testing
OMIM RCV000017415 SCV000037687 pathogenic Bernard-Soulier syndrome, type B 2000-07-15 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003919 SCV001161874 likely pathogenic Increased mean platelet volume no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003920 SCV001161875 likely pathogenic Macrothrombocytopenia no assertion criteria provided research

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