Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708093 | SCV000837203 | pathogenic | Duchenne muscular dystrophy | 2018-03-29 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 45-55 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in several individuals affected with Duchenne or Becker muscular dystrophy (PMID: 22090376, 11257468, 26911353, 18752307, 20683981, 16030524) and in individuals affected with dilated cardiomyopathy (PMID: 18261911). For these reasons, this variant has been classified as Pathogenic. |