ClinVar Miner

Submissions for variant NM_001571.6(IRF3):c.829G>A (p.Ala277Thr)

gnomAD frequency: 0.00460  dbSNP: rs143769046
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891824 SCV001035662 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891824 SCV004810470 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing IRF3: BS1
Breakthrough Genomics, Breakthrough Genomics RCV000891824 SCV005209872 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000585897 SCV000693865 risk factor Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 2018-03-14 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003925756 SCV004744618 likely benign IRF3-related disorder 2020-03-16 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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