ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser)

dbSNP: rs1940804969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377597 SCV001574968 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-09-01 criteria provided, single submitter clinical testing

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