VHL and neoplasm: Reassessing these variants in the light of ACMG/AMP variant interpretation criteria, four would be considered to have pathogenic variants, one a variant of uncertain significance, and two had a heterozygous missense variant (NM_000551.4(VHL):c.598C > T (p.Arg200Trp)) that is pathogenic for Chuvash polycythaemia in the homozygous state but is not now considered to be a risk factor for VHL-related tumours [17,18].