ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)

dbSNP: rs1085307428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272257 SCV002556532 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-05-10 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000488579 SCV000576350 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia no assertion criteria provided literature only

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