Assess the clinical impact of this variant on gene LOC126859653, SKIC2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:31929542-31930741| SKI2 subunit of superkiller complex), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Trichohepatoenteric syndrome 2