ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)

gnomAD frequency: 0.00088  dbSNP: rs563818052
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
Eurofins Ntd Llc (ga) RCV000725976 SCV000340938 uncertain significance not provided 2016-03-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000306219 SCV000594985 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000725976 SCV001825082 likely benign not provided 2019-05-02 criteria provided, single submitter clinical testing
Invitae RCV001855184 SCV002237052 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957480 SCV004770009 likely benign GLI2-related condition 2019-09-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.