Table 6.
Summary of BRCA1/2 variants and results obtained in the RTT.
| Variant | Type of Variant | Sample | Lab1 | Lab2 | Lab3 | Lab4 | Lab5 | Detection Concordance to Reference Genotype (%) | Interpretation Concordance to Reference Genotype (%) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | nonsense | DNA_1 | * | 100% | 60% | ||||
| 2 | frameshift | DNA_2 | * | 80% | 75% | ||||
| 3 | wt | DNA_3 | 100% | 100% | |||||
| 4 | splicing | FFPE_1 | 40% | 100% | |||||
| 5 | wt | FFPE_2 | 100% | 100% | |||||
| 6 | frameshift | FFPE_3 | 40% | 100% | |||||
| 7 | frameshift | CC_1 | 20% | 100% | |||||
| 8 | nonsense | CC_1 | 100% | 100% | |||||
| 9 | frameshift | CC_1 | 60% | 100% | |||||
| 10 | frameshift | CC_1 | 20% | 100% | |||||
| 11 | missense | CC_1 | 20% | 100% | |||||
| 12 | frameshift | CC_2 | * | 50% | 50% | ||||
| 13 | nonsense | CC_2 | 50% | 100% | |||||
| 14 | frameshift | CC_2 | 25% | 100% | |||||
| 15 | frameshift | CC_2 | 0% | 100% | |||||
| 16 | missense | CC_2 | 25% | 100% | |||||
| 17 | wt | CC_3 | 100% | 100% |
Green: concordance in detection and interpretation; red: no reporting; orange: concordance in detection but not in interpretation; grey: no results delivered by the lab; *: discrepancy with clinical relevance.