Fig. 3
From: Expanding ACMG variant classification guidelines into a general framework
Key components of our proposed general variant classification framework. a Disease genes were first classified into either “causing” or “predisposing” based upon multiple sources of evidence. Then, minimal extension and adaptation were made to the five ACMG variant classificatory categories in the different gene contexts. The two new categories proposed in this study are highlighted in blue. b Illustration of the use of two thresholds to distinguish pathogenic variants from predisposing variants in disease-causing genes