ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter)

dbSNP: rs1085307317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002506184 SCV002809371 likely pathogenic Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2021-07-22 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000488770 SCV000576191 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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