ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1687G>A (p.Val563Met)

gnomAD frequency: 0.00003  dbSNP: rs557172581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005027565 SCV005654569 uncertain significance Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2023-12-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090994 SCV005816479 likely benign Primary pulmonary hypertension 2024-02-15 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000488683 SCV000576265 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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