ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2919G>C (p.Val973=)

gnomAD frequency: 0.00007  dbSNP: rs376116707
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
Genetic Services Laboratory, University of Chicago RCV000503027 SCV000595220 uncertain significance not specified 2016-05-11 criteria provided, single submitter clinical testing
Invitae RCV000951645 SCV001098061 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962385 SCV004786055 likely benign IFIH1-related condition 2022-08-30 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.