Figure 5.

Result breakdown and availability of pathogenicity classification for full-gene germline MMR analyses by year. For patients found to have multiple variants potentially in multiple genes, only the most significant result (P>LP>VUS>abnormal unclassified>normal) for that patient test episode is counted. For the small number of patients with multiple full-gene test episodes in different years, the result of each test episode is represented in the respective year. Abnormal unclassified refers to results labelled by the submitting laboratory as abnormal but for which no pathogenicity classification was available. X-axis: calendar years; Y-axis: proportion of patients tested that year; Table: percentage of patients tested that year with a given result outcome. MMR, mismatch repair; LP, likely pathogenic; P, pathogenic; VUS, variant of uncertain significance.