ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.729+10C>G

dbSNP: rs753734177
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953647 SCV001100226 likely benign not provided 2023-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000953647 SCV001907833 benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338880 SCV004050304 benign Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2023-04-11 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.