Fig. 1

Representation of our approach during reanalysis. The workflow used is based on the 2020 ACMG recommendations (see sections on the right). After extraction of the list of aCGH analysis, we extracted CNVs classified as uncertain significance (left of the figure). This list allow us to create a bed file that was fed into AnnotSV website. Based on the resulting file and clinical information (gender, phenotype), we build an Excel spreadsheet summarizing both files and creating links to major online databases. Briefly, the gene content and frequency in the general population were checked using UCSC and DGV. ClinGen was used to determine dosage sensitivity and OMIM to assess possible morbid gene in the region. Finally, reported association was assessed using PubMed, Decipher, and Clinvar. All this data was combined in one slide presentation and analyzed using 2020 ACMG recommendations and ClinGen expert reports if available