ACMG/AMP Variant Class From Evidence Codes
ACMG/AMP variant class from the evidence codes applied, by the 2015 rules, the 2020 points and the 2018 posterior.
Open the calculator → Runs in your browser. Data leaves only if you deliberately send a problem report from the interactive tool.
Example
- Evidence codes applied, one per line
- PVS1 PM2_Supporting
Result: 2015 rules: Uncertain significance, as no combining rule is met; points 9: Likely pathogenic; posterior 0.9878.
The tool opens with these values already filled in. Replace them with your own.
What you enter
- Evidence codes applied, one per line (PVS1, PM2_Supporting)
- Prior probability of pathogenicity (default 0.10)
- A gene-specific specification allows a moderate benign weight
How this is calculated
Citation
Richards S, et al. Genet Med 2015;17:405-424, Table 5 combining rules; Tavtigian SV, et al. Genet Med 2018;20:1054-1060 (posterior) and Hum Mutat 2020;41:1734-1737 (points); ClinGen SVI strength notation (2017) and PM2 recommendation (2020). Read the sources: Richards 2015 ↗, Tavtigian 2018 ↗, Tavtigian 2020 ↗
A reference and educational tool. Not medical, legal, or financial advice, and not a substitute for clinician judgment.