ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2295C>A (p.Pro765=)

gnomAD frequency: 0.00006  dbSNP: rs769746385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873588 SCV001015605 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003457883 SCV004183779 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing IFIH1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003920422 SCV004745172 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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