Schematic diagram representing RTEL1 variants identified in this study. (A) We screened 516 patients from 2 independent cohorts (the KCH and NIH), identifying 23 RTEL1 variants in 27 unrelated patients. The number of patients with pathogenic/likely pathogenic, uncertain significance, or likely benign variants are presented by colored bars according to their clinical diagnosis. (B) Twenty-five patients carried heterozygous RTEL1 variants, whereas 2 patients were biallelic. The number of patients with LP, US, and LB variants are summarized in the figure. Heterozygous LP variants were enriched in the group of patients suspected to have inherited BMF (see supplemental Figure 1 for cohort’s data). *Patients with hypoMDS and not suspected to have constitutional BMF. †Four RTEL1 variants identified in patients NIH-1 and NIH-2 were associated with an autosomal recessive form of AA because they were compound heterozygous. ‡Despite being classified as LB, the P871L variant was seen together with the D719N variant in compound heterozygosity.