Figure 1.

Simons Searchlight genetic laboratory reports reviewed and the resulting variant classifications upon revision. A. Genetic laboratory reports are reviewed and curated prior to approving research participation. Genetic conditions with fewer than 5 participants do not meet the data release threshold and are not included in data releases until they accumulate 5 or more participants. B. Breakdown of variant categories before reclassification within version 11 Simons Searchlight data release and (C) post-reclassification categories of current American College of Medical Genetics and Genomics (ACMG) classification. B, benign; CNV, copy-number variant; LB, likely benign; LP, likely pathogenic; P, pathogenic; VUS, variant of uncertain significance.