ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1468C>T (p.Gln490Ter) (rs1085307429)

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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 RCV001262033 SCV001439408 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-01-01 criteria provided, single submitter research PVS1+PM2+PP4
Medical & Molecular Genetics Group,University of Lincoln RCV000488710 SCV000576351 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia no assertion criteria provided literature only

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