KMT2D and Kabuki syndrome: The variants NM_003482.4(KMT2D):c.5189-1G > C and c.5782 + 1G > A (Table 2) are located in canonical splice sites of KMT2D and solely on this argument, the PVS1 criteria could apply, as loss-of-function variants are a known mechanism of KMT2D-related Kabuki syndrome.