RBM8A is the only gene from our analysis that demonstrated a discovery pattern favoring #3-NAHRdelCNV+SNV, with the majority (95%, 73/77) of patients affected with the RBM8A- thrombocytopenia-absent radius (TAR; OMIM #274000) syndrome being compound heterozygous for the 1q21.1-TAR deletion and a small variant, whereas no patients were found to carry homozygous RBM8A pathogenic variants (Additional file 1: Table S6). This evidence concerns the gene RBM8A and Thrombocytopenia.