ClinVar Miner

Submissions for variant NC_000023.10:g.(?_32841392)_(32841524_?)dup

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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 RCV000708160 SCV000837270 likely pathogenic Duchenne muscular dystrophy 2023-08-10 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 5 of the DMD gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame. A similar copy number variant has been observed in individuals with Duchenne or Becker muscular dystrophy (PMID: 16770791, 16917894, 17259292). 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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