Classifying variants in the CHEK2 gene: the importance of collaboration.
Moderate risk genes such as CHEK2, pose challenges for variant classification.
Data sharing and collaboration between laboratories is necessary to reduce classification discrepancies, improve variant interpretation, and provide clearer information for clinicians and patients.
Authors: Carin Espenschied; Petra Kleiblova; Marcy Richardson; Lenka Stolarova; Jana Soukupova; Petra Zemankova; Michal Vocka; Laura Panos Smith; Jill Dolinsky; Chia-Ling Gau; Zdenek Kleibl