Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801985 | SCV000941791 | pathogenic | Duchenne muscular dystrophy | 2018-08-24 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 10-22 of the DMD gene. It preserves the integrity of the reading frame. This variant has been observed an individual affected with Becker muscular dystrophy (PMID: 23667215, 24292997). Sub-genic deletion of exon 13 has been determined to be pathogenic (PMID: 15684864, 28116794, 28610567). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |