ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.879+19C>T

gnomAD frequency: 0.37206  dbSNP: rs17883129
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522356 SCV001731886 benign Immunodeficiency 28 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001615215 SCV001836120 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487405 SCV004233920 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 47% of patients studied by a panel of primary immunodeficiencies. Number of patients: 41. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001615215 SCV005307741 benign not provided criteria provided, single submitter not provided

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