European Journal of Human Genetics (2026)
EMQN Best Practice Guidelines for RYR1 provide expert-led recommendations to support accurate interpretation and clear reporting of genetic variants, helping laboratories deliver consistent, high-quality results that improve patient care.
Key benefits:
- Standardised, evidence-based approach to variant interpretation
- Clear and consistent reporting to support clinical decision-making
- Improved risk assessment for patients and their families
- Enhanced diagnostic quality across laboratories
