Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539985 | SCV000625816 | pathogenic | Duchenne muscular dystrophy | 2017-10-20 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 3-5 of the DMD gene. It preserves the integrity of the reading frame. Deletion of exons 3-5 has been reported in individuals affected with Becker or Duchenne muscular dystrophy (PMID: 14977063, 24292997). For these reasons, this variant has been classified as Pathogenic. |