Many genetic variants are of unknown significance (VUS). Efficient and accurate
electronic health record (EHR) phenotyping, having facilitated genome-wide association
studies, could identify patients with VUSs who exhibit phenotypic features that might
indicate pathogenicity of those variants. Identifying and following up with these patients could improve their healthcare, and assist in improving genetic variant categorization. With further assessment, these methods, combined with other data, could be used to identify phenotypes in patients with VUSs, URVs, or CPVs, which in turn could facilitate the functional categorization of those variants as either pathogenic or benign.