The variant affects gene LOC126806446, COL3A1 (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409| collagen type III alpha 1 chain), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection