“…These data facilitate interpretation of other patient's variants by providing classifications of variants that were previously assessed in this particular genome diagnostic lab. For other variants, after filtering for potential pathogenicity, various databases are consulted such as Human Gene Mutation Database (HGMD; Stenson et al, ), Leiden Open Variation Database (LOVD; Fokkema et al, ) and ClinVar (Landrum et al, ) as well as resources such as PubMed (Fiorini, Lipman, & Lu, ) and OMIM (Amberger, Bocchini, Schiettecatte, Scott, & Hamosh, ). In the absence of a positive hit or any clear in silico prediction of the variant effect, clinicians have to resort to contacting their peers in other diagnostic labs to determine whether they have seen these variants before.…”