SMARCA2 and CHARGE syndrome: The platform currently supports autism spectrum disorder (CHD8/16p11.2 del), CHARGE syndrome (CHD7), Down syndrome (21 trisomy), Dup7 syndrome (7q11.23 dup), Kabuki syndrome (KMT2D), Nicolaides–Baraitser syndrome (SMARCA2), Sotos syndrome (NSD1), Weaver syndrome (EZH2), Williams–Beuren syndrome (7q11.23 del) (Table S2).