Out of 48 Danish families presenting with renal cell carcinoma, one patient was found to harbor the germline mutations c.3G>A (p.Met1Ile) and c.631A>C (p.Met211Leu) in the VHL gene. This patient was diagnosed with clear cell renal cell carcinoma (age of onset: 28). He had a family history of testicular cancer in his maternal uncle. The patient has been through the national screening program for putative VHL, which includes MRI of the cerebrum, spinal medulla and abdomen, neurological examination, auditory tests, ocular examination and blood work for chromogranin A and metanephrines, with normal results. The proband also presented with the germline variant c.1729+8T>C in BAP1. Unclear if/which other family members were genetically tested.