Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817947 | SCV000958534 | pathogenic | Duchenne muscular dystrophy | 2018-07-09 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 13 of the DMD gene. It preserves the integrity of the reading frame. Similar deletions of exon 13 have been observed in individuals affected with dystrophinopathy (PMID: 18353051, 22379338, 28116794, 28610567). For these reasons, this variant has been classified as Pathogenic. |