ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)

gnomAD frequency: 0.00009  dbSNP: rs374205118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196856 SCV001367489 uncertain significance Singleton-Merten syndrome 1 2019-03-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001228695 SCV001401109 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV004584425 SCV002578056 uncertain significance See cases 2021-12-15 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2

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