O54: Comprehensive database of variants in ACMG secondary findings genes from AI-based systematic evidence curation and expert variant classification

ACMG has published recommendations for reporting pathogenic variants in 81 secondary findings (SF) genes that are clinically significant and often encountered in routine diagnostic workflows. Evidence necessary for accurate SF variant classification or reclassification is distributed throughout scientific publications. Moreover, citing information is frequently absent from publicly available variant databases like ClinVar. Accessing these data requires extensive and time-consuming literature reviews by variant analysts, delimiting rapid and reproducible analysis.