Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033465 | SCV001196772 | pathogenic | Duchenne muscular dystrophy | 2022-02-27 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 10-12 of the DMD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with dystrophinopathies (PMID: 19937601, 21815800, 29604111). For these reasons, this variant has been classified as Pathogenic. |