ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.4627-85T>C

gnomAD frequency: 0.68824  dbSNP: rs1329377
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544026 SCV001762992 benign Combined immunodeficiency due to DOCK8 deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001673173 SCV001886647 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487467 SCV004233448 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 44% of patients studied by a panel of primary immunodeficiencies. Number of patients: 42. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001673173 SCV005270479 benign not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.