Since a significant proportion of NF1 variants affects splicing, we used an in vitro minigene assay to examine a series of germline variants in the NF1 gene identified in our cohort of patients with a clinical diagnosis/suspicion of neurofibromatosis type 1 (Table 1 and Supplementary Table S1 for detailed clinical features). Here, NF1 is linked to neurofibromatosis type 1.