ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2439del (p.Ile813fs)

dbSNP: rs2042990064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223700 SCV001395859 pathogenic Duchenne muscular dystrophy 2019-07-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile813Metfs*7) in the DMD gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV003145420 SCV003829298 likely pathogenic not provided 2022-03-28 criteria provided, single submitter clinical testing

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