ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2962G>T (p.Val988Leu)

gnomAD frequency: 0.00026  dbSNP: rs74162090
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875467 SCV001017799 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-22 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238252 SCV002011383 uncertain significance not provided 2021-11-03 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.