Table 1 Comparison of simplified classification and clinvar classification.
Clinvar classification | Simplified classification* |
|---|---|
Benign | LB |
Benign ~ Likely Benign | LB |
Likely Benign | LB |
Likely Pathogenic | LP |
Likely Pathogenic ~ Pathogenic | LP |
Not Provided ~ Benign | VOUS |
Not Provided ~ Likely Pathogenic | VOUS |
Pathogenic | LP |
Uncertain Significance | VOUS |
Uncertain Significance ~ Benign ~ Likely Benign | VOUS |
Uncertain Significance ~ Likely Benign | VOUS |
Uncertain Significance ~ Likely Pathogenic ~ Pathogenic | VOUS |
Uncertain Significance ~ Not Provided | VOUS |
Uncertain Significance ~ Likely Benign ~ Likely Pathogenic ~ Pathogenic | VOUS |
