Table 8 Assessment of the pediatric cancer dataset (5 patients) by VIC, ClinVar, SIFT, PolyPhen-2, and COSMIC. The number of reported variants with strong or potential clinical significance from the diagnostic lab (“REPORT” row) is also listed
VIC | |||||
|---|---|---|---|---|---|
Strong | Potential | Uncertain | Benign/likely benign | Total | |
ClinVar | |||||
Pathogenic | 1 | 1 | 16 | 0 | 18 |
Conflict | 0 | 0 | 4 | 0 | 4 |
Benign | 0 | 0 | 32 | 0 | 32 |
Uncertain | 0 | 2 | 11 | 0 | 13 |
Other | 0 | 0 | 4 | 0 | 4 |
N/A | 0 | 2 | 178 | 0 | 180 |
SIFT | |||||
Damaging | 1 | 0 | 73 | 0 | 74 |
Benign | 0 | 5 | 65 | 0 | 70 |
N/A | 0 | 0 | 107 | 0 | 107 |
PolyPhen-2 | |||||
Damaging | 1 | 5 | 88 | 0 | 94 |
Benign | 0 | 0 | 51 | 0 | 51 |
N/A | 0 | 0 | 106 | 0 | 106 |
COSMIC | |||||
Pathogenic | 1 | 5 | 42 | 0 | 48 |
Neutral | 0 | 0 | 26 | 0 | 26 |
None | 0 | 0 | 15 | 0 | 15 |
N/A | 0 | 0 | 162 | 0 | 162 |
REPORT | |||||
Strong clinical significance | 2 | ||||
Potential clinical significance | 6 | ||||
VIC | |||||
Total | 1 | 5 | 245 | 0 | 251 |