ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp)

dbSNP: rs2151108403
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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 RCV002223111 SCV002500870 pathogenic Pseudo von Willebrand disease criteria provided, single submitter clinical testing

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