We analyzed deletions and duplications of each region separately, resulting in 28 total recurrent CNV regions. Using this approach, we demonstrated and confirmed the pathogenic nature of 20 recurrent regions. For the 16p11.2 duplications that had previously been reported as uncertain in the literature, we were able to re-classify this CNV region as pathogenic. Overall, we conclude that 21 out of the 28 recurrent CNVs examined should be considered pathogenic and provide a clinical diagnosis for any individual harboring a CNV of these regions.
