Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer
Sophie Allen, Charlie F Rowlands, Samantha Butler, Miranda Durkie, Carolyn Horton, Tina F. Pesaran, Marcy E. Richardson, Rachel Robinson, Alice Garrett, George J. Burghel, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, , Catarina Olimpio
The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.
Genetics in Medicine · Sep 5, 2025Peer-reviewedGenetic & Genomic Medicine