ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter)

gnomAD frequency: 0.00001  dbSNP: rs765887545
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000488855 SCV003835514 pathogenic Pulmonary hypertension, primary, 1 2022-09-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147483 SCV003835515 pathogenic Pulmonary venoocclusive disease 1 2022-09-07 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000488855 SCV000576266 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003728 SCV001162171 pathogenic Pulmonary arterial hypertension no assertion criteria provided research

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