A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were included for analysis. One proband was genetically confirmed with this germline mutation: a 46 year old female from kindred #89 who presented with a renal cell carcinoma at that age. This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).