Modify rules for ACMG classification
Background
The rules for combining ACMG criteria have had multiple, unofficial amendments since the original release (Richards 2015). The change identified by users as most urgent to change is that 1 PVS + ≥1 PM (orig: ≥2 PM) should give suggested Class 5 instead of Class 4. This change is:
- Recommended by Tavtigian (2018), ACGS (Ellard 2020) and CanVIG
- Complies with SOPs at AMG OUS
Implementation
Modify rules:
- 1 PVS + ≥1 PM = Class 5
- Remove 1 PVS + 1 PM = Class 4 (but leave 1 PVS + PP)