ClinVar Miner

Submissions for variant NM_000407.4(GP1BB):c.47T>C (p.Leu16Pro) (rs1601248210)

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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 RCV000852142 SCV000899766 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003916 SCV001161871 likely pathogenic Macrothrombocytopenia no assertion criteria provided research

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