ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.780_789dup (p.Asp264fs) (rs1588581846)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV000790624 SCV000928329 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 2019-04-30 criteria provided, single submitter clinical testing frameshift mutation in a gene without tolerance for loss of function mutations

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