ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2006C>T (p.Thr669Ile)

gnomAD frequency: 0.00061  dbSNP: rs139108417
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
GeneDx RCV001703769 SCV000523332 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23028188)
Eurofins Ntd Llc (ga) RCV000438090 SCV000708879 likely benign not specified 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV000883417 SCV001026724 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-12-06 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.