ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr)

dbSNP: rs765474118
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Total submissions: 1
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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 RCV002223113 SCV002500875 pathogenic Pseudo von Willebrand disease criteria provided, single submitter clinical testing

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