ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)

dbSNP: rs1940905575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334154 SCV001526921 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2018-05-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004820877 SCV005442193 uncertain significance Hereditary factor VIII deficiency disease 2024-12-19 criteria provided, single submitter clinical testing

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