This variant lies on Chromosome 4 and affects the gene LOC126807011, RBPJ (MED14-independent group 3 enhancer GRCh37_chr4:26407341-26408540| recombination signal binding protein for immunoglobulin kappa J region). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Adams-Oliver syndrome 3