Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033523 | SCV001196830 | pathogenic | Duchenne muscular dystrophy | 2019-12-15 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 49 of the DMD gene. It preserves the integrity of the reading frame. Similar deletions of exon 49 have been observed in individuals affected with DMD-related conditions (PMID: 9619643, 14977063, 27854212). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic. |