This sequence change occurs on Chromosome 3, altering LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Von Hippel-Lindau syndrome