ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala)

gnomAD frequency: 0.00016  dbSNP: rs145641024
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
CeGaT Center for Human Genetics Tuebingen RCV000513621 SCV000608972 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042225 SCV001205897 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000513621 SCV005412909 uncertain significance not provided 2024-07-08 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.