| Phenotype | Pathogenicity of rare variants in SCN5A identified in included BrS cases was centrally assessed using the American College of Medical Genetics and Genomics and Association of Molecular Pathology (ACMG/AMP) guidelines, using an adapted version of CardioClassifier incorporating a quantitative approach based on case-control analyses, as performed previously in hypertrophic cardiomyopathy genes, as well as a curated compendium of functional data. |
| Sample Ancestry | European |
| Additional Ancestry Description | Dutch, Belgian, German, British, Turkish, Italian, Spanish, Danish, French, Irish |
| Total number | 2,469 individuals |
| Detailed numbers |
454 cases (18.39%)
2,015 controls
|
These samples overlap with the cases used in the score development