Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531332 | SCV000625778 | pathogenic | Duchenne muscular dystrophy | 2019-02-22 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 49-55 of the DMD gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with DMD-related disease. Sub-genic deletions of exon 49 have been determined to be pathogenic (PMID: 14977063, 9619643, 23438214, 20031633, 9470882, 20847377). Therefore, deletions that fully encompass that region are also expected to be pathogenic For these reasons, this variant has been classified as Pathogenic. |