ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.7309+12789_7490del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697046 SCV000825636 likely pathogenic Duchenne muscular dystrophy 2018-05-07 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 51 (c.7309+12789_7490del) of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DMD-related disease. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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