ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2232T>A (p.Phe744Leu)

gnomAD frequency: 0.00007  dbSNP: rs201142986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001413051 SCV001615155 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2021-06-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943070 SCV004760445 likely benign IFIH1-related condition 2023-02-15 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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