ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.746G>T (p.Gly249Val)

dbSNP: rs121908062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000004370 SCV002500877 pathogenic Pseudo von Willebrand disease criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000004370 SCV002556895 likely pathogenic Pseudo von Willebrand disease 2021-04-20 criteria provided, single submitter clinical testing The GP1BA c.746G>T variant is classified as Likely Pathogenic (PS3, PM2, PP1, PP3, PP4, PP5)
OMIM RCV000004370 SCV000024541 pathogenic Pseudo von Willebrand disease 1993-05-01 no assertion criteria provided literature only

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