This variant affects the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Osteogenesis imperfecta type III