Table 1 Descriptive statistics of variants from reference materials
From: Development and validation of next generation sequencing based 35-gene hereditary cancer panel
| Specimen | Number of variants | ||
| SNVs | Indels | Total | |
| Cohort I: blinded group (n = 94) | 4738 | 20 | 4758 |
| Specimen | Number of pathogenic/likely pathogenic variants | ||
| SNVs | Indels | Total | |
| Cohort II: positive reference samples (n = 53) | 31 | 31 | 62 |
| TOTAL | 4769 | 51 | 4820 |