ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2528A>G (p.His843Arg)

gnomAD frequency: 0.68382  dbSNP: rs3747517
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253451 SCV000314020 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000986842 SCV001135984 benign Singleton-Merten syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001521988 SCV001731435 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2021-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001636819 SCV001849229 benign not provided 2021-03-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31866997, 27720759, 17000706, 23535865)
Genome-Nilou Lab RCV001701976 SCV001933267 benign Aicardi-Goutieres syndrome 7 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986842 SCV001933268 benign Singleton-Merten syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001636819 SCV002074652 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic 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.