Figure 2 shows data for two subjects with VUS in SMC1A, the causative gene for Cornelia de Lange syndrome (CdLS) type 2, SMC1A:c.598A>C, p.(Lys200Gln) and SMC1A:c.1280A>G, p.(Glu427Gly). Here, SMC1A is linked to Cornelia de Lange syndrome.