Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000240212 | SCV000299134 | pathogenic | Duchenne muscular dystrophy | 2016-12-03 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 2 of the DMD gene. The duplicated copy of this region is likely in tandem and results in an absent or disrupted protein product. Truncating variants in DMD are known to be pathogenic. Duplication of exon 2 has been reported as a commonly occurring single exon duplication in individuals with Duchenne muscular dystrophy (PMID: 16917894, 19937601, 25244321). For these reasons, this variant has been classified as Pathogenic. |