ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) (rs753792569)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527139 SCV000639403 likely benign Hereditary hemorrhagic telangiectasia type 2 2017-06-23 criteria provided, single submitter clinical testing
Medical & Molecular Genetics Group,University of Lincoln RCV000488472 SCV000576318 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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