As shown on the variant page for ETV6 Arg359Ter, the single gold medal variant detected in the patient with ALL was expert-classified as likely pathogenic because the mutation is present in a disease-related gene (i.e., ETV6 is a pediatric ALL driver gene), is a loss-of-function null variant, and is not present in the ExAC non-TCGA database (Fig. 4). Here, ETV6 is linked to acute lymphoblastic leukemia.