Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549806 | SCV000625791 | pathogenic | Duchenne muscular dystrophy | 2022-10-26 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 45-49 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 individuals with Becker or Duchenne muscular dystrophy (PMID: 2063877, 9007319, 18752307, 22090376). For these reasons, this variant has been classified as Pathogenic. |