ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)

dbSNP: rs1085307418
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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 RCV002496883 SCV002810494 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-09-09 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000488764 SCV000576334 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia no assertion criteria provided literature only

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