Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542227 | SCV000625799 | pathogenic | Duchenne muscular dystrophy | 2022-07-03 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 19-44 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 Duchenne muscular dystrophy (PMID: 9628192, 12324874). For these reasons, this variant has been classified as Pathogenic. |