ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2308del (p.Arg770fs)

dbSNP: rs1085307380
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Total submissions: 1
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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 RCV000488806 SCV000576283 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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