ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.105del (p.Cys36fs) (rs1555152447)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000585643 SCV000693447 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2017-07-17 criteria provided, single submitter clinical testing This pathogenic deletion causing a frameshift mutation in the ACVRL1 gene was identified in a mosaïc state (16% in the blood) in a male patient with hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu syndrome

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