Finally, a Likely Pathogenic variant, p.Ser1517Arg, was found in VWF (encoding von Willebrand factor), and has been reported in a patient with von Willebrand disease type 2 (OMIM #613554), underscoring the potential role of FAM20C in the coagulation pathway. The gene discussed is FAM20C; the disease is Von Willebrand disease type 2.