Figure 1.
RUNX1 variants in ClinVar and their clinical significance. All 591 RUNX1 variants deposited in ClinVar as of 30 June 2020 and their clinical significance based on the 5-tier system for germline variants (benign, likely benign, variant of uncertain significance, likely pathogenic, pathogenic) are shown in the pie chart. Only 21% of the RUNX1 variants are clinically actionable (ie, likely pathogenic and pathogenic).