For the BAB3097 MdnCNV case, two de novo duplication CNV, one (17p12p11.2) with two genes within a contiguous duplication, RAI1 and PMP22 associated with Yuan-Harel-Lupski Syndrome (YUHAL; MIM#616652) [36], and the other (1p36.22p36.13) encompassing established haploinsufficiency gene SPEN, meet ACMG criteria for pathogenicity (pathogenic/likely pathogenic) and appear to be the clinically relevant genes within these CNV intervals (Table 2). Here, SPEN is linked to PMP22-RAI1 contiguous gene duplication syndrome.