ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.780_789dup (p.Asp264fs)

dbSNP: rs1588581846
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000790624 SCV000928329 likely pathogenic Telangiectasia, hereditary hemorrhagic, 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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