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. 2026 Oct 3;17:11324. doi: 10.1038/s41467-026-77941-y

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’.