ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.879+32dup

dbSNP: rs143248516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001522274 SCV001731789 benign Immunodeficiency 28 2024-01-22 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487403 SCV004234004 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 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 27. Only high quality variants are reported.

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