ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009363 SCV000029581 pathogenic Pulmonary hypertension, primary, 1 2006-02-01 no assertion criteria provided literature only
OMIM RCV003984802 SCV000115385 pathogenic Pulmonary venoocclusive disease 1 2006-02-01 no assertion criteria provided literature only
Rare Disease Genomics Group, St George's University of London RCV000009363 SCV000575965 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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