ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1524+9T>C

gnomAD frequency: 0.00004  dbSNP: rs74162083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001468447 SCV001672499 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938834 SCV004750955 likely benign IFIH1-related disorder 2019-05-30 no assertion criteria provided 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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