Assess the clinical impact of this variant on gene LOC126805612, PIK3CD (MED14-independent group 3 enhancer GRCh37_chr1:9778914-9780113| phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Immunodeficiency 14