Consensus Guidelines for Variant Interpretation in ENG and ACVRL1

Published on May 30, 2024

A group of HHT researchers was assembled to serve on a 'Variant Curation Expert Panel (VCEP)' to develop criteria for evaluating the pathogenicity of variants in ENG and ACVRL1 and to review variants in the ClinGen database. Their recent publication details the modifications made to variant interpretation guidelines of the American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP). 

 

Learn more about the HHT VCEP by clicking here. 

 

Access the publication in the attachment or on the Hindawi website here. 

 

Thank you to this panel for your work to standardize and curate variants associated with HHT into a resource for us all! 

Specification_of_ACMG_Variant_Curation_Guidelines_for_ENG_and_ACVRL1_2024.pdf
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