Variants detected (NGS platform: OncoScreen ST2.0) | Variants detected (NGS platform: OncoPlus) |
Pathogenic variants | Pathogenic variants |
BRAF c.1799 T > A, p.V600E | BRAF c.1799 T > A, p.V600E |
CDKN2A loss | CDKN2A loss |
BRAF amplification | BRAF amplification |
| PTEN loss |
| Variants of indeterminate clinical significance |
| APC c.385G > C, p.E129Q |
| APC c.6211A > G, p.I2071V |
| PTCH1 c.3641C > T, p.T1214 M |
| RET c.2939 + 6C > T |
| FANCA Loss |
| H3F3A Loss |
| NOTCH1 Loss |
| PALB2 Loss Equivocal |
| RAD51 Loss Equivocal |
| RET Loss |
| TSC1 Loss Equivocal |
| TSC2 Loss Equivocal |