ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1766-11dup

dbSNP: rs548261817
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960735 SCV001107749 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916029 SCV004730295 likely benign IFIH1-related disorder 2020-04-20 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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