ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1654-29C>T

gnomAD frequency: 0.23485  dbSNP: rs2527506
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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 RCV001554684 SCV001775967 benign BENTA disease 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554685 SCV001775968 benign Severe combined immunodeficiency due to CARD11 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554686 SCV001775969 benign Immunodeficiency 11b with atopic dermatitis 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399362 SCV004102305 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 38% of patients studied by a panel of primary immunodeficiencies. Number of patients: 36. Only high quality variants are reported.

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