# ACMG evidence thresholds (example, adjust per lab policy) ba1_af: 0.05 # Stand-alone benign if AF >= this bs1_af: 0.01 # Strong benign if AF >= this (and not meeting BA1) pm2_af: 0.0005 # Moderate pathogenic if AF <= this bp7_splice_ai_max: 0.1 # Supporting benign if synonymous and predicted low splice impact # Genes considered loss-of-function sensitive for PVS1 auto-tagging lof_genes: - BRCA1 - BRCA2 - TTN - CFTR