ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs)

dbSNP: rs2139084307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002074469 SCV002320744 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2022-02-25 criteria provided, single submitter clinical testing

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