Table 1. Overall Molecular Diagnosis Rate.
| Total (N = 814) | CES Test | |||||||
|---|---|---|---|---|---|---|---|---|
| Proband (n = 338) | Trio (n = 410) | Other (n = 66)a | ||||||
| No. of Patients | % (95% CI) | No. of Patients | % (95% CI) | No. of Patients | % (95% CI) | No. of Patients | % (95% CI) | |
| Diagnosis | 213 | 26 (23-29) | 74 | 22 (18-27) | 127 | 31 (27-36) | 12 | 18 (11-29) |
| Potential diagnosis | 228 | 28 (25-31) | 121 | 36 (31-41) | 84 | 20 (17-25) | 23 | 35 (24-47) |
| No significant variant | 342 | 42 (39-46) | 139 | 41 (36-46) | 173 | 42 (38-47) | 30 | 45 (34-57) |
| Otherb | 31 | 4 (3-5) | 4 | 1 (0-3) | 26 | 6 (4-9) | 1 | 2 (0-9) |
Abbreviation: CES, clinical exome sequencing.
a
The other CES group includes cases in which only 1 or no parent was sequenced but other family members were sequenced.
b
Other includes cases in which we confirmed previously reported microarray finding that the genomic data board determined to be likely pathogenic, cases in which we reported variants of uncertain significance in novel genes, and cases in which CES was ordered to rule out a clinical diagnosis.