Screening of all single exomes of 2,019 individuals with situs inversus totalis, heterotaxy, or isolated CHD detected two additional individuals with monoallelic novel missense variants in WDR47. One male individual (EGAN00001389851_501) presented with discordant ventriculo-arterial connections, the other female individual (EGAN00001387735_501) had a ventricular septal defect (VSD). This evidence concerns the gene WDR47 and Situs inversus totalis.