Fig. 3
From: Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Representative findings from the curation of specific instances of GJB2 functional assays. We assessed the following methods and validation parameters of electrical coupling and dye transfer assays: experimental material, controls, replication, and output. †Specific instance of assay cited by the Variant Curation Expert Panel (VCEP) as evidence for the PS3/BS3 criteria in pilot variant classification, see Additional file 2: Tables S4 and S5 for the full primary literature curation results