ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1356+32T>C

gnomAD frequency: 0.33786  dbSNP: rs11246213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544324 SCV001763338 benign Immunodeficiency 39 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487471 SCV004233256 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 59% of patients studied by a panel of primary immunodeficiencies. Number of patients: 56. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004718915 SCV005324656 benign not provided criteria provided, single submitter not provided

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