In our study, we used BIC (Breast Cancer Information Core, assessed may 2018) (6) and CFTR2 (Clinical and Functional Translation of CFTR, assessed may 2018) (11) databases to compile two target variant spectrums in order to test efficiency of diverse NGS-based systems to detect BRCA1/2 and CFTR clinically significant variants respectively. The gene discussed is BRCA1; the disease is breast cancer.