Conclusion
Due to the high volumes of DES data generated and the clinical data curation efforts needed for accurate variant classifications, diagnostic laboratories are a powerful partner for clinical research initiatives, especially those involving disease gene discovery efforts. GeneMatcher is a data-sharing initiative for identifying and collecting genotype-phenotype paired data for gene-disease characterization and has been crucial in our laboratory’s gene characterization efforts. In turn, this has a direct and meaningful impact on the diagnostic rates for clinical genetic testing both for prospective tests and retrospectively providing reclassification of variants to previously tested individuals.