The variant affects gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Chuvash polycythemia