Fig. 6

Overview of imaging flow cytometry results for individuals with VUS. Left panel: The pie chart indicates the number on individuals with VUS in well-known disease genes that were correctly clustered with its pathogenic counterpart based on diagnostic assay results, leading to the VUSes being classified as pathogenic or probably pathogenic based on ACMG guidelines. Only one individual was clustered with healthy controls (HC). Diagnostic assays were inconclusive and the variant remained classified as VUS. The colored planes indicate the significant changes that were identified with IFC (upper row) and the ACMG classification of VUSes (lower row). Right panel: Pie chart indicating the clusters identified with IFC assays for individuals with VUS in genes of uncertain significance (GUS). Three individuals clustered with the patient with pathogenic ERCC1 variants presumably based on altered DNA damage response, two individuals clustered together based on striking mitosis defects and the rest of the individuals clustered with healthy controls based on 1800 features. The colored planes indicate the significant changes found with IFC