ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu)

gnomAD frequency: 0.00121  dbSNP: rs140977021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652104 SCV000773972 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937978 SCV004759079 likely benign IFIH1-related disorder 2023-03-10 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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