The CFTR c.53+1G>T variant is classified as pathogenic and is present in the ClinVar database (Variation ID: 53988) [39], having been reported in patients with CF in various studies in the literature (PMID: 22658665, 16596947, 23276700, 31126253) [28,40,41,42]. This evidence concerns the gene CFTR and cystic fibrosis.