ClinGen Hemoglobinopathy VCEP ACMG/AMP specifications for HBB and HBA2 variant interpretation in thalassemia

Background: The ClinGen Hemoglobinopathy Variant Curation Expert Panel (VCEP) was established in 2019 to develop disease-specific adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) sequence variant interpretation framework for hemoglobinopathies. This study describes the development, validation, and ClinGen approval of the first disease-specific ACMG/AMP specifications for autosomal recessive thalassemia related to HBB and HBA2, providing a standardized framework for globin gene variant interpretation. Methods: Disease-specific A

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