Table 1 Summary of classification and reclassification from ClinVar (Jan 2016–July 2019)
From: Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
Starting classification (n) | Percentage reclassified (n) | Reclassification type (n) | Percentage of initial classification group | Percentage of all reclassifications |
|---|---|---|---|---|
Pathogenic (63,658) | 0.17% (110) | P → LP (64) | 58.2% | 1.4% |
P → VUS (41) | 37.3% | 0.91% | ||
P → LB (1) | 0.91% | 0.02% | ||
P → B (4) | 3.6% | 0.09% | ||
Likely pathogenic (36,808) | 2.16% (796) | LP → P (625) | 78.5% | 13.9% |
LP → VUS (165) | 20.7% | 3.7% | ||
LP → LB (4) | 0.50% | 0.09% | ||
LP → B (2) | 0.25% | 0.04% | ||
Uncertain significance (272,581) | 0.95% (2584) | VUS → P (171) | 6.6% | 3.8% |
VUS → LP (486) | 18.8% | 10.8% | ||
VUS → LB (1586) | 61.4% | 35.2% | ||
VUS → B (341) | 13.2% | 7.6% | ||
Likely benign (140,779) | 0.71% (996) | LB → P (2) | 0.20% | 0.04% |
LB → LP (2) | 0.20% | 0.04% | ||
LB → VUS (66) | 6.6% | 1.5% | ||
LB → B (926) | 93.0% | 20.6% | ||
Benign (58,024) | 0.03% (15) | B → P (1) | 6.7% | 0.02% |
B → LP (3) | 20.0% | 0.07% | ||
B → VUS (1) | 6.7% | 0.02% | ||
B → LB (10) | 66.7% | 0.22% |