Examples of reclassification of VUS in our study include a novel and distinctive phenotype for the SRCAP gene [31], previously associated with Floating-Harbor syndrome only, a VUS in PRPS1 recently also reported by others [32], and small genotype-phenotype case series for LMBRD2 [33] and PAX3 [34] (Additional file 2: Fig. S1). This evidence concerns the gene PRPS1 and Floating-Harbor syndrome.