ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1959G>A (p.Pro653=) (rs148226583)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000398266 SCV000343347 uncertain significance not provided 2016-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295417 SCV000469203 likely benign Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334254 SCV000469204 likely benign Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386435 SCV000469205 likely benign Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000634029 SCV000755307 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2017-09-05 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.