ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1237+14T>C

gnomAD frequency: 0.33777  dbSNP: rs12422022
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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 RCV001515576 SCV001723674 benign Immunodeficiency 39 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001515576 SCV001763340 benign Immunodeficiency 39 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487345 SCV004233258 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 RCV004718851 SCV005324658 benign not provided criteria provided, single submitter not provided

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