DiagMMR clinical validation results and diagnostic accuracy. A, Average positioning of all samples interpreted as MMR proficient (above cutoff), in “gray area” not showing significant proficiency or deficiency (within cut-off area), or MMR deficient (below cutoff; n = 119). All results are averages of at least two independent tests yielding a conclusive interpretation. Samples have been separated into three clusters according to sample type on the x-axis (controls, MSH2 carrier samples, and MSH6 carrier samples) B. ROC curve and corresponding AUC value for prediction of MMR deficiency with DiagMMR. Shaded area corresponds to significance level of 0.01 around cutoff 0 based on Clopper and Pearson (29) and Pepe (30).