The discordant cases included a subject (Val118) with a previously reported likely pathogenic variant, KANSL1 (NM_001193466.1): c.297_307del; p.Gly100Glnfs*6, related to Koolen–de Vries syndrome (KDVS), and another subject (Val26) with a previously reported likely pathogenic variant, CREBBP (NM_004380.2):c.4480C>A; p.Pro1494Thr, related to the Rubinstein–Taybi syndrome (RSTS). Here, KANSL1 is linked to Koolen-de Vries syndrome.