The gene MMP13, LOC126861318 (matrix metallopeptidase 13| BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Metaphyseal chondrodysplasia, Spahr type