ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter)

dbSNP: rs1085307360
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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 RCV000488476 SCV000576252 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
Wendy Chung Laboratory, Columbia University Medical Center RCV001823920 SCV002073645 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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