The variant affects gene MMP13, LOC126861318 (matrix metallopeptidase 13| BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Spondyloepimetaphyseal dysplasia, Missouri type