Extended Data Fig. 9: Stratification of patients with VHL disease by SGE function class. | Nature Genetics

Extended Data Fig. 9: Stratification of patients with VHL disease by SGE function class.

From: Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

Extended Data Fig. 9

a, Patients in the Freiburg VHL Registry were grouped according to whether their germline VHL variant was functionally classified as LOF1 or LOF2 by SGE, and a Kaplan–Meier estimator was used to assess differences in age-related ccRCC penetrance with log-rank test for significance (additional details in Methods). b, The same analysis and log-rank test were repeated including only patients with variants not reported to be pathogenic in ClinVar at time of analysis (that is, absent, VUS or conflicting interpretations).

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