Figure 2.

Overall impact of gene characterization following GeneMatcher entry Figure 2: 477 characterized gene reports were issued as of October 2021 for gene–disease associations entered in GeneMatcher. In total, 218 (45%) of these were reclassifications proactively issued by the laboratory. One hundred and nine of these reports were upgraded reclassifications from candidate gene reports and 109 were reclassifications issued to individuals who did not initially meet our candidate gene reporting criteria. After establishing a gene–disease association, 259 additional probands received a relevant finding in one of these genes, illustrating the impact disease gene discoveries have on the overall diagnostic exome sequencing (DES) diagnostic rate. For 79 cases for which we issued a candidate gene report, the gene–disease association remains uncharacterized. In four cases, further review of a reported candidate gene no longer met our criteria. These findings were removed from the proband's report and reclassifications were issued. In addition, these matches were marked as “suspended” in GeneMatcher. Currently, we have four cases pending review for reclassification based on recent literature