Genetic & Genomic MedicinemedRxivPreprint
ClinGen CDH1 specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines
Xi Luo, Jamie L. Maciaszek, Bryony A. Thompson…·Rachid Karam
The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.
DOI 10.1101/2021.11.01.21265332