This genomic variant is located on Chromosome 15, within the CYP11A1 (cytochrome P450 family 11 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency