For the missense variant in the CELSR1 gene NM_014246.4:ex9:c.5165G>A:NP_055061.1:p.(Arg1722Gln) a P_POT criterion is automatically assigned at a Moderate level to highlight the possibility that the subsequent segregation analysis in the proband’s parents might reveal the de novo occurrence of the variant, as pathogenic variants in the CELSR1 gene are associated with lymphatic malformation 9 (OMIM #619319), which is inherited in an autosomal dominant fashion. The gene discussed is CELSR1; the disease is lymphatic malformation 9.