ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3840+3A>G

gnomAD frequency: 0.00865  dbSNP: rs16938572
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213640 SCV000269032 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 3840+3A>G in intron 30 of DOCK8: This variant is not expected to have clinical s ignificance because it has been identified in 2.7% (119/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs16938572).
Illumina Laboratory Services, Illumina RCV001084124 SCV000480297 benign Combined immunodeficiency due to DOCK8 deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513764 SCV000609608 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV003761829 SCV000645703 benign Autosomal recessive hyper-IgE syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000513764 SCV001850587 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001084124 SCV002795712 likely benign Combined immunodeficiency due to DOCK8 deficiency 2021-12-23 criteria provided, single submitter clinical testing

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.