In order to investigate whether PVs in deep intronic or regulatory regions of the NF2, SMARCB1 and LZTR1 genes contribute to the pathogenesis in patients with schwannomatosis, Piotrowski et al. [43] investigated 33 SWN patients without germline first-hit PVs in NF2, SMARCB1 and LZTR1 as determined by initial clinical exon sequencing. Here, SMARCB1 is linked to schwannomatosis.