ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu)

dbSNP: rs121909289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Genomics Group, St George's University of London RCV000488470 SCV000576335 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia no assertion criteria provided literature only

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