The combined annotated test cohorts AML02, AML08, and NOPHO AML (n = 180) showed per class concordance scores of 0.91 for AML with inv(16); t(16;16); CBFB::MYH11 (n = 35), 0.70 for AML with mutated CEBPA (n = 10), 1.00 for AML with mutated NPM1 (n = 3), 1.00 for AML with t(6;9;DEK::NUP214 (n = 1), 1.00 for AML with t(8;16); KAT6A::CREBBP (n = 2), 0.98 for AML with t(8;21); RUNX1::RUNX1T1 (n = 48), 0.83 for AML with t(v;11); KMT2A-r (n = 72), 1.00 for APL with t(15;17); PML::RARA (n = 4), and 0.60 for MDS-related, secondary myeloid (n = 5) (Fig. 2b). Here, KAT6A is linked to acute myeloid leukemia.