Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466123 | SCV000563947 | pathogenic | Duchenne muscular dystrophy | 2016-08-11 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 3-13 of the DMD gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. In-frame exonic deletions in DMD are typically pathogenic (PMID: 20485447). This particular deletion has been reported in the literature in affected individuals with Duchenne and Becker muscular dystrophy (PMID: 18974567, 21969337, 7853367). For these reasons, this variant has been classified as Pathogenic. |