Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032574 | SCV001195881 | pathogenic | Duchenne muscular dystrophy | 2019-08-23 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 14-25 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). Sub-genic deletion of exon 14 has been determined to be pathogenic (PMID: 23453023, 19040728). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |