ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.895-65T>G

gnomAD frequency: 0.36072  dbSNP: rs2296826
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 RCV001544385 SCV001763412 benign Combined immunodeficiency due to DOCK8 deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001597305 SCV001831760 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399354 SCV004102149 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 50% of patients studied by a panel of primary immunodeficiencies. Number of patients: 48. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001597305 SCV005270392 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.