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Background:  Cystic fibrosis, caused by mutations of the  CFTR  gene, is the most common autosomal recessive condition in the European population and there are specific screening programs aimed at investigating healthy carriers. They are usually articulated in two steps: initially individuals are screened with a panel of the 20–50 most common  CFTR  mutations; the second step is offered to partners of carriers who were found negative at the first test and consists in the analysis of the entire  CFTR  gene. This strategy provides high sensitivity, however, it often identifies novel variants (especially in introns) of unknown significance. Establishing the pathogenicity of these variants of the  CFTR  gene is not a simple task.

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay