ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

Specialty Areas:
Date: January 17, 2024
Authors:
Alejandro A Schäffer, Alicia B. Byrne, Brian H. Shirts, Heidi L. Rehm, Leslie G. Biesecker, Sean Tavtigian, Steven M. Harrison, Tina Pesaran, MA, MS, CGC
Journal: American journal of human genetics
Journal Volume: 111