ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)

dbSNP: rs750085854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262082 SCV001439469 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-01-01 criteria provided, single submitter research PM2+PM1+PP4
Invitae RCV001262082 SCV001545882 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-09-01 criteria provided, single submitter clinical testing

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