ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1491G>C (p.Thr497=)

dbSNP: rs12479043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001522622 SCV001732198 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001597289 SCV001830344 benign not provided 2021-04-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399321 SCV004102164 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 49% of patients studied by a panel of primary immunodeficiencies. Number of patients: 47. Only high quality variants are reported.

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