A mutation found in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Von Hippel-Lindau syndrome