TABLE 2.
Highly predictive phenotype evidence | Moderately predictive phenotype evidence | |
---|---|---|
No. of variants classified as VUS when predictive phenotype evidence originally applied (historical VUS) | 890 | 11,942 |
No. of historical VUS reclassified to P/LP | 270 | 1697 |
No. of historical VUS reclassified to B/LB | 5 | 111 |
Concordance | 98.2% | 93.9% |