Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630665 | SCV000751630 | pathogenic | Duchenne muscular dystrophy | 2022-10-22 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 45-51 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 DMD-related dystrophinopathies (PMID: 9007319, 9619643, 19367636, 20153965, 25348330, 28878337). For these reasons, this variant has been classified as Pathogenic. |