Given a variant located on Chromosome 2 and affecting LOC126806446, COL3A1 (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409| collagen type III alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Ehlers-Danlos syndrome, type 4