ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.763A>G (p.Met255Val) (rs121908064)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851872 SCV000899905 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851873 SCV000899906 likely pathogenic Impaired ristocetin-induced platelet aggregation 2019-02-01 criteria provided, single submitter research
OMIM RCV000004372 SCV000024543 pathogenic Pseudo von Willebrand disease 1993-04-01 no assertion criteria provided literature only

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