Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032693 | SCV001196000 | pathogenic | Duchenne muscular dystrophy | 2019-03-19 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 12-45 of the DMD gene. It preserves the integrity of the reading frame. This variant has been observed in an individual affected with Duchenne muscular dystrophy (PMID: 19907931). Sub-genic deletion of exon 14 has been determined to be pathogenic (PMID: 17259292, 23453023, 19040728, PMID 25972034). Therefore, deletions that fully encompass that region are also expected to be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |