Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032508 | SCV001195815 | pathogenic | Combined immunodeficiency due to DOCK8 deficiency | 2021-08-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2-46 of the DOCK8 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with DOCK8-related conditions (PMID: 26573532). The region of the DOCK8 gene that includes exon(s) 2-44 has been determined to be clinically significant (PMID: 25724123). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |