Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525838 | SCV000625775 | pathogenic | Duchenne muscular dystrophy | 2017-03-17 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 52-55 of the DMD gene. It preserves the integrity of the reading frame. Deletion of exons 52-55 has been reported in the literature in a family affected with Becker or Duchenne muscular dystrophy (PMID: 19475718). In addition, in-frame deletions of exons 52-53 have been reported in individuals affected with Becker or Duchenne muscular dystrophy (PMID:  (PMID: 21969337, 16834926). For these reasons, this variant has been classified as Pathogenic. |