ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala)

gnomAD frequency: 0.00162  dbSNP: rs138057665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871358 SCV001012999 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908272 SCV004720637 benign IFIH1-related disorder 2019-06-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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