The challenging and dynamic process of variant interpretation has spurred the creation of two major variant databases—ClinVar4 and the Human Gene Mutation Database (HGMD)5—to catalog the rapidly increasing volume of reported genetic variants. ClinVar is a freely accessible, public database that archives reports of the relationships between variations and phenotypes with varying degrees of supporting evidence. HGMD, a pay-for-access service, is a comprehensive reference database of published germline mutations that are associated with human inherited diseases based on curation of published literature.6 These databases are invaluable resources but because of their broad all-encompassing design, are not disease specific.