Fig. 1: Graphical illustration of step A and B grading.
From: Stepwise ABC system for classification of any type of genetic variant
The two scoring steps are functional (a) and clinical (b). Step A can be viewed as a likelihood scale from normal function to abnormal or no function, the balance being between fVUS and HFE. Step B grades from unknown clinical relevance (cVUS) to pathogenic with high penetrance, “risk” comprising both know risk factor genes and variants of interest (VOI).
