ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1371dup (p.Gln458fs)

dbSNP: rs1085307340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Genomics Group, St George's University of London RCV000488695 SCV000576225 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003719 SCV001162162 pathogenic Pulmonary arterial hypertension no assertion criteria provided research

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