It was found at a frequency of 4 × 10−6 in 250,448 control chromosomes (gnomAD), and has been described in the literature in newborn screening cases associated with cystic fibrosis (CF) and CFTR-related metabolic syndrome [7,67,68,69]; it was also described in two infants with an initial inconclusive diagnosis of CF, one of whom was diagnosed with CF by school age and the other remained inconclusive during the same follow-up period [70,71]. The gene discussed is CFTR; the disease is cystic fibrosis.