Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033936 | SCV001197243 | pathogenic | Duchenne muscular dystrophy | 2019-04-04 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 45-51 of the DMD gene. It preserves the integrity of the reading frame. Deletions of exons 45-51 have been reported in multiple individuals affected with Duchenne or Becker muscular dystrophy (PMID: 19367636, 20153965, 9007319, 16770791). For these reasons, this variant has been classified as Pathogenic. |