Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474616 | SCV000563951 | pathogenic | Duchenne muscular dystrophy | 2016-05-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 48-57 of the DMD gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This deletion has been reported in an individual affected with Becker muscular dystrophy. In addition, other in-frame deletions in the same region of the DMD gene have been reported in affected individuals (PMID: 10841222, 15841391 , 19907931, 25614876). For these reasons, this variant has been classified as Pathogenic. |