This variant lies on Chromosome 17 and affects the gene LOC126862603, SRSF1 (BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417| serine and arginine rich splicing factor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Intellectual disability