For some diseases, cryptic splicing variants are in fact very common such as POLR3A variants for recessive spastic ataxia [23], ATM variants for Ataxia telangiectasia [24], ABCA4 for Stargardt diseases [25], and NF1 variants for neurofibromatosis [26]. Here, NF1 is linked to Ataxia-telangiectasia.