ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.827-19dup

dbSNP: rs200073401
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
Illumina Laboratory Services, Illumina RCV000263684 SCV000469263 likely benign Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316962 SCV000469264 likely benign Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387783 SCV000469265 likely benign Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002058673 SCV002401415 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-01-24 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.