ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu)

dbSNP: rs539777490
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 RCV000900950 SCV001045295 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438567 SCV004147088 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing IFIH1: BP4, BS2

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.