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Validation of filtering strategy for pathogenic variants in FBN1.
| Database | Sensitivity (%) | Specificity (%) | Positive predictive value (PPV) (%) | Negative predictive value (NPV) (%) | |
|---|---|---|---|---|---|
| FBN1 | ClinVar (B/LB n = 19/20, P/LP n = 16/20) | 80 | 95 | 94 | 82 |
| LOVD (B/LB n = 20/20, P/LP n = 20/20) | 100 | 100 | 100 | 100 |
B: Benign; LB: Likely Benign; P: Pathogenic; LP: Likely Pathogenic.
