ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly)

dbSNP: rs999380946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198970 SCV001369965 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PP2,PP3.

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