ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31679355)_(31774212_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817275 SCV000957825 pathogenic Duchenne muscular dystrophy 2022-10-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 51-53 of the DMD gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). A similar copy number variant has been observed in individuals with DMD-related dystrophinopathies (PMID: 11409318, 18663755, 22090376, 23299919, 24099565). For these reasons, this variant has been classified as Pathogenic.

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