ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter)

gnomAD frequency: 0.00003  dbSNP: rs759293027
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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 RCV000488753 SCV000576274 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
Wendy Chung Laboratory, Columbia University Medical Center RCV001823921 SCV002073654 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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