Table 1.
OddsPath-based assay evidence calibration using RAD51D clinical variants
| Pathogenic variants | Benign variants | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| n | Abnormal | Normal | Odds Path | Evidence points | n | Abnormal | Normal | Odds Path | Evidence points |
| 37 | 37 | 0 | 174 | +4 | 174 | 0 | 174 | 1/37 | −4 |
Known pathogenic or benign variants were obtained from ClinVar, requiring two stars (multiple submitters, without discordance), and resolving conflicts when at least two non-VUS interpretations were available (Methods). OddsPath scores were determined as described26. Variants predicted to be splice disruptive by SpliceAI (score≥0.2) were excluded and treated as ‘not determined’.