Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819209 | SCV000959856 | pathogenic | Duchenne muscular dystrophy | 2018-09-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 45-47 of the DMD gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Gross deletions in the DMD gene are known to be pathogenic. Similar deletions involving exons 45-47 have been reported in multiple individuals affected with Becker muscular dystrophy (PMID: 11257468, 2063877, 19449031, 18752307, 16566881, 22090376) and in individuals affected with dilated cardiomyopathy (PMID: 21851881). For these reasons, this variant has been classified as Pathogenic. |