FIGURE 2.

(A) Molecular results in the first-line trio-ES subgroup (top) and in the second-line trio-ES subgroup (below). CNV, copy number variant; InA, initial analysis; ReA, reanalysis; SNV, single nucleotide variant; VUS, variant of unknown significance. (B) Histograms of the molecular results stratified by a clinical subgroup, namely, two major anomalies, one major and one minor anomaly, and one anomaly with a strong suspicion of a genetic disorder. (C) Mode of inheritance for the identified variants and molecular results. AD, autosomal dominant; AR, autosomal recessive; FL, first-line analysis; SL, second-line analysis; VUS, variant of unknown significance; XLD, X-linked dominant; XLR, X-linked recessive.