ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1766C>A (p.Ala589Asp)

dbSNP: rs145792185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945675 SCV001091715 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970648 SCV004779313 likely benign IFIH1-related disorder 2023-06-06 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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