Fig. 1
Adapted from Harrison et al. [3]
Criteria categories and their strength levels for the classification and interpretation of sequence variants. This scheme shows the five categories of all criteria, their direction (benign or pathogenic), and the corresponding strength. The third line shows the scaled odds of pathogenicity using the Bayesian statistical reasoning approach [5]. Pathogenic criteria include PVS1, PS1–4, PM1–6, and PP1–5, while benign criteria include BA1, BS1–4, and BP1–6. Each criterion is followed by possible weight modifications (stand-alone [A], very strong [VS], strong [S], moderate [M], or supporting [P]). Criteria marked with “*” are not used by our team.