Table 1.

Illustration of Automated Interpretation of De Novo Variants from Individuals with Several Different Diseases and Control Subjects

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.

^ap values were calculated with a two-sided Fisher’s exact test.