Classification | Controls (982 exomes) | All cases (1173 exomes) | 1 case/family (738 exomes) |
---|---|---|---|
Pathogenic | 6 (6) | 5 (6) | 3 (3) |
Likely pathogenic | 2 (2) | 6 (8) | 4 (5) |
Prevalence of pathogenic and likely pathogenic variants | 8/982 0.8% 95% CI 0.3–1.4% | 14/1173 1.2% 95% CI 0.6–1.8% | 8/738 1.1% 95% CI 0.3–1.8% |
p value (controls vs. all cases) | Â | 0.5196 | Â |
p value (controls vs. 1 case/families) | Â | Â | 0.6171 |