Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033317 | SCV001196624 | pathogenic | Duchenne muscular dystrophy | 2019-12-27 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 49-51 of the DMD gene. It preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals affected with muscular dystrophy (PMID: 9470882, 9619643), as well as in several individuals with dilated cardiomyopathy (PMID: 9470882, 20031633, Invitae). For these reasons, this variant has been classified as Pathogenic. |