ACMG classification adjustments
Pre-release
Pre-release
- Mechanisms of disease for cancer susceptibility genes (GoF vs. LoF) retrieved from Maxwell et al., Am J Hum Genet, 2016
- Exceptions for HFE/SERPINA1 wrt. high population MAF (BA1)
- Threshold for genes with "primarily truncations" set to 90% pathogenic truncations (BP1)
- Consider only pathogenic ClinVar variants (not likely pathogenic) when checking for novel peptide changes at pathogenic loci (PS1/PM5)