Concomitantly, the further determination of pathogenicity and thereevaluation of missense variants curated in annotation databases like CFTR2 arefundamental, mainly because there are those cases of positive newborn screening,inconclusive diagnosis, and CFTR-related metabolic syndrome (Farrell et al., 2017), where CF diagnosis isvery difficult to achieve. The gene discussed is CFTR; the disease is cystic fibrosis.