Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821937 | SCV000962711 | pathogenic | Duchenne muscular dystrophy | 2021-06-05 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 45-48 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 individual(s) with Becker muscular dystrophy, Duchenne muscular dystrophy, and dilated cardiomyopathy (PMID: 26911353, 25244321, 24217213, 21851881). For these reasons, this variant has been classified as Pathogenic. |