ClinVar Miner

Submissions for variant NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)

gnomAD frequency: 0.00003  dbSNP: rs551140561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003918 SCV001161873 likely pathogenic Macrothrombocytopenia no assertion criteria provided research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001003918 SCV002546505 uncertain significance Macrothrombocytopenia no assertion criteria provided research

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