CFTR and cystic fibrosis: Based on this finding, a manual re-evaluation of WES data allowed us to identify a second variant, c.1210-12T(5) (IVS8-5T, rs1805177), representing a pathogenic modulator allele in cystic fibrosis (VCV000242535), which was paternally inherited, thus confirming a diagnosis of CFTR-RD.