Breakdown of clinical and genetic results of family screening by ACMG class Breakdown of clinical and genetic results of family screening by ACMG class
| Pathogenic Variant (ACMG Class IV & V) | Variant of Uncertain Significance (ACMG Class III) | No Gene Variant Identified | |
|---|---|---|---|
| Number (n=21) | 4 | 5 | 12 |
| 1st Degree Relatives Screened (n=78) | 17 | 19 | 42 |
| 2nd Degree Relatives Screened (n=45) | 4 | 23 | 18 |
| Genotype Detected (n=4) | 3 | 1 | - |
| Phenotype Detected (n=10) | 1 | 5 | 4 |
| Number of SADS cases in family (n=3) | 1 | 0 | 2 |