ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1198G>C (p.Ala400Pro)

dbSNP: rs2139076978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729985 SCV001976692 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-10-01 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3

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