Curating the clinical validity of gene-disease associations is an important first step in the clinical diagnosis and medical management of a patient’s genetic condition. As vast amounts of human genetic data become available through massively parallel sequencing efforts, it is increasingly evident that a single gene can be potentially associated with multiple conditions. Thus, it is essential to assess the phenotypic spectrum associated with variants in a gene and determine whether different molecular mechanisms and/or inheritance patterns underlie this phenotypic variability. In this session, we will explore how standardized assessment of gene-disease associations can aid in determining variant pathogenicity for clinical reporting.