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