ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro)

dbSNP: rs1592224349
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Total submissions: 2
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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 RCV000857241 SCV000999828 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV000857241 SCV001541730 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2021-09-01 criteria provided, single submitter clinical testing

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