ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1413+1G>A

dbSNP: rs1085307349
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Total submissions: 3
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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 RCV000488765 SCV000576234 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003721 SCV001162164 pathogenic Pulmonary arterial hypertension no assertion criteria provided research
Wendy Chung Laboratory, Columbia University Medical Center RCV001823917 SCV002073638 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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