Mutation context: Chromosome 6, Gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency