Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823962 | SCV000964837 | pathogenic | Duchenne muscular dystrophy | 2019-11-01 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 45-49 of the DMD gene. It preserves the integrity of the reading frame. Deletion of exons 45-49 has been reported in several individuals affected with Becker or Duchenne muscular dystrophy (PMID: 2063877, 18752307, 9007319, 22090376). For these reasons, this variant has been classified as Pathogenic. |