TABLE 3.
n | Median | 25th percentile | 75th percentile | Min | Max | |
---|---|---|---|---|---|---|
Pathogenic/Likely Pathogenic | ||||||
All SCN | 440 | 0.985 | 0.965 | 0.992 | 0.046 | 0.999 |
de novo SCN | 271 | 0.987 | 0.967 | 0.993 | 0.067 | 0.998 |
Inherited SCN | 75 | 0.974 | 0.881 | 0.987 | 0.101 | 0.999 |
SCN1A | 343 | 0.974 | 0.987 | 0.993 | 0.046 | 0.999 |
SCN2A | 62 | 0.955 | 0.874 | 0.982 | 0.101 | 0.998 |
SCN8A | 35 | 0.980 | 0.931 | 0.987 | 0.704 | 0.996 |
KCNQ2 and KCNQ3 | 68 | 0.971 | 0.938 | 0.987 | 0.004 | 0.997 |
VUS | ||||||
All SCN | 92 | 0.820 | 0.291 | 0.966 | 0.021 | 0.992 |
Benign | ||||||
All SCN | 84 | 0.229 | 0.111 | 0.467 | 0.010 | 0.989 |
KCNQ2 and KCNQ3 | 13 | 0.510 | 0.152 | 0.941 | 0.004 | 0.961 |
Exome Aggregate Consortium all SCN | ||||||
All | 911 | 0.299 | 0.123 | 0.751 | 0.002 | 0.997 |
Epilepsy | 28 | 0.739 | 0.284 | 0.964 | 0.010 | 0.992 |
No Epilepsy | 883 | 0.292 | 0.119 | 0.738 | 0.002 | 0.997 |
Validation SCN | ||||||
Pathogenic/Likely Pathogenic | 137 | 0.983 | 0.967 | 0.992 | 0.014 | 0.999 |
Benign | 6 | 0.294 | 0.208 | 0.613 | 0.015 | 0.630 |