Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794138 | SCV000933528 | pathogenic | Duchenne muscular dystrophy | 2019-11-13 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 51-52 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in several individuals affected with Duchenne muscular dystrophy (PMID: 10480348, 17259292, 23914114). For these reasons, this variant has been classified as Pathogenic. |