ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=)

gnomAD frequency: 0.50722  dbSNP: rs2304154
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001523343 SCV001733037 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000601070 SCV001875682 benign Adams-Oliver syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001523343 SCV001914370 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601070 SCV000733838 benign Adams-Oliver syndrome 2 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701071 SCV001922569 benign not specified no assertion criteria provided 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.