ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.853-1G>A

dbSNP: rs1085307267
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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 RCV000488671 SCV000576119 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003697 SCV001162140 likely pathogenic Pulmonary arterial hypertension no assertion criteria provided research
Wendy Chung Laboratory, Columbia University Medical Center RCV001823914 SCV002073605 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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