ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg)

gnomAD frequency: 0.17239  dbSNP: rs9808753
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001520782 SCV001729971 benign Immunodeficiency 28 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001673101 SCV001887884 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20952689, 25854761)
Genome-Nilou Lab RCV001520782 SCV001933276 benign Immunodeficiency 28 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487396 SCV004234050 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 22. Only high quality variants are reported.

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