ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu)

dbSNP: rs2151107964
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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 RCV002245370 SCV002515579 pathogenic Pseudo von Willebrand disease no assertion criteria provided research

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