As mentioned above, in BWS the presence of omphalocele is mainly related to KCNQ1OT1:TSS-DMR hypomethylation or loss-of-function mutations in the maternally derived allele of CDKN1C. Thus, the presence of a VUS in 2 of 19 individuals (10.5%) and of a rare variant in one case with the same rare phenotype might not be due to a casual association, even though data supporting their causative role are not currently available. The gene discussed is CDKN1C; the disease is omphalocele.