Table 1.
Interpretation | DD | SCZ | ASD | EE | ID | Affected Subjects | Control Subjects |
---|---|---|---|---|---|---|---|
Benign | 7 | 3 | 52 | 0 | 0 | 62 | 0 |
Likely benign | 288 | 241 | 1,085 | 59 | 56 | 1,729 | 250 |
Uncertain significance | 819 | 466 | 2,869 | 180 | 125 | 4,459 | 493 |
Likely pathogenic | 339 | 199 | 967 | 81 | 80 | 1,666 | 206 |
Pathogenic | 125 | 26 | 226 | 17 | 36 | 430 | 10 |
Total | 1,578 | 935 | 5,199 | 337 | 297 | 8,346 | 959 |
Benign and likely benign | 295 | 244 | 1,137 | 59 | 56 | 1,791 | 250 |
Pathogenic and likely pathogenic | 464 | 225 | 1,193 | 98 | 116 | 2,096 | 216 |
p value (compared to control subjects)a | 4.71E−7 | 0.65 | 0.06 | 0.00061 | 2.07E−6 | 0.0022 | – |
OR and 95% CI | 0.55 (0.44–0.69) | 0.94 (0.72–1.21) | 0.82 (0.67–1.00) | 0.52 (0.35–0.75) | 0.42 (0.29–0.60) | 0.74 (0.61–0.90) | – |
Abbreviations are as follows: DDD, developmental disorder; SCZ, schizophrenia; ASD, autism spectrum disorder; EE, epileptic encephalopathy; ID, intellectual disability; OR, odds ratio; and CI, confidence interval.
p values were calculated with a two-sided Fisher’s exact test.