ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2839+70A>G

gnomAD frequency: 0.99321  dbSNP: rs1182157
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554675 SCV001775958 benign BENTA disease 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554676 SCV001775959 benign Severe combined immunodeficiency due to CARD11 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554677 SCV001775960 benign Immunodeficiency 11b with atopic dermatitis 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394142 SCV004101834 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 96. Only high quality variants are reported.

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