Furthermore, a mild clinical presentation lacking any externally visible plexiform, cutaneous, or subcutaneous neurofibromas is observed in NF1-affected individuals heterozygous for the NF1 missense pathogenic variants at codon 18095,6 or the 3-bp in-frame NF1 deletion, c.2970_2972del (p.Met992del).4 Because the latter genotype–phenotype correlation was established on a limited number of NF1-affected adults (19/47), an update of this initial intragenic genotype–phenotype correlation is important for clinical practice. This evidence concerns the gene NF1 and neurofibroma.