Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812673 | SCV000952995 | pathogenic | Duchenne muscular dystrophy | 2021-11-08 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 45-55 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 dilated cardiomyopathy and/or Duchenne or Becker muscular dystrophy (PMID: 11257468, 16030524, 18261911, 18752307, 20683981, 22090376, 26911353). For these reasons, this variant has been classified as Pathogenic. |