The European Society
of Human Genetics

News details

ESHG/Eurogentest two-dimensional variant classification system

An ad hoc working group in ESHG (Johan den Dunnen, Helen Firth, Nicole de Leeuw, Hans Scheffer and Gunnar Houge) has proposed a two dimensional system for variant classification, with a molecular and clinical arm. Everybody is free to test the system, and feedback is highly appreciated! The system with information and explanations use can be found here.