Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536648 | SCV000625813 | likely pathogenic | Duchenne muscular dystrophy | 2017-03-02 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 5-9 of the DMD gene. It preserves the integrity of the reading frame. This particular deletion has been reported in the literature in individuals affected with DMD-related conditions (PMID: 25482253, 16030524). In summary, this variant is a rare in-frame deletion that has been reported in individuals with DMD-related disease. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |