ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2019T>C (p.Asp673=)

gnomAD frequency: 0.00002  dbSNP: rs779835794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002065531 SCV002468889 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2021-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910511 SCV004727430 likely benign IFIH1-related disorder 2019-04-01 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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