This was recently successfully done to identify deep intronic BRCA1 and BRCA2 variants in families with early onset breast cancer [30], deep intronic SMCHD1 variants in families with Facioscapulohumeral muscular dystrophy type 2 (FSHD2) [31], or a deep intronic WDR45 variant in a family with beta-propeller protein-associated neurodegeneration (BPAN) (Roeben et al., in preparation). The gene discussed is BRCA1; the disease is facioscapulohumeral muscular dystrophy 2.