Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001946584 | SCV002230877 | pathogenic | Developmental and epileptic encephalopathy, 23 | 2022-08-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the DOCK7 gene has been identified. Loss-of-function variants in DOCK7 are known to be pathogenic (PMID: 24814191). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. |