ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.529+1G>A

dbSNP: rs1553508187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV000664169 SCV000784727 likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease 2018-06-27 criteria provided, single submitter case-control
Fulgent Genetics, Fulgent Genetics RCV002499140 SCV002811680 pathogenic Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2021-08-24 criteria provided, single submitter clinical testing
Wendy Chung Laboratory, Columbia University Medical Center RCV001823926 SCV002073589 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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