ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32310062)_(32651077_?)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 RCV000804606 SCV000944523 pathogenic Duchenne muscular dystrophy 2022-12-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 10-42 of the DMD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Duchenne or Becker muscular dystrophy (PMID: 16030524). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DMD protein in which other variant(s) (Deletion (Exons 10-29)) have been determined to be pathogenic (PMID: 20036901, 22776072). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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