ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2919G>C (p.Val973=)

gnomAD frequency: 0.00007  dbSNP: rs376116707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503027 SCV000595220 uncertain significance not specified 2016-05-11 criteria provided, single submitter clinical testing
Invitae RCV000951645 SCV001098061 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962385 SCV004786055 likely benign IFIH1-related disorder 2022-08-30 criteria provided, single submitter 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).

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