ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter)

dbSNP: rs137852747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009349 SCV000029567 pathogenic Pulmonary hypertension, primary, 1 2000-09-01 no assertion criteria provided literature only
Rare Disease Genomics Group, St George's University of London RCV000009349 SCV000576077 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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