The variant was classified as pathogenic (pathogenic very strong (PVS) 1 + pathogenic moderate (PM) 2 + pathogenic supporting (PP) 1) according to the American College of Medical Genetics and Genomics guidelines because the loss of NFKB1 function is known to cause CVID, and the variant identified in the proband and her mother was null. This evidence concerns the gene NFKB1 and common variable immunodeficiency.