ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1764dup (p.Ala589fs)

dbSNP: rs553669430
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000652114 SCV000773982 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001766414 SCV001989181 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003928128 SCV004741262 likely benign IFIH1-related disorder 2020-01-29 no assertion criteria provided 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.