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Patients in the Freiburg VHL Registry with missense variants assayed by SGE (n = 321) were grouped based on the function class of their germline variant. Due to the high prevalence of p.Y98H in this cohort, an additional LOF2 group excluding p.Y98H was analyzed, as well. A Kaplan–Meier estimator was used to assess age-related ccRCC penetrance (log-rank test for significance).

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