Several VUS have been reported also in other RP genes mutated in DBA patients (Arbiv et al., 2017; Doherty et al., 2010; Gerrard et al., 2013; Konno et al., 2010; Pospisilova et al., 2012; Smetanina et al., 2015; Tsangaris et al., 2011; van Dooijeweert et al., 2017). The gene discussed is BLOC1S3; the disease is Diamond-Blackfan anemia.