ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31657990)_(31836819_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456883 SCV000563969 pathogenic Duchenne muscular dystrophy 2016-11-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 49-54 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with DMD-related muscular dystrophy (PMID: 16030524, 25482253). For these reasons, this variant has been classified as Pathogenic.

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