Haemoglobinopathy Variant Curation Expert Panel recognized by ClinGen

We are proud to inform you that the Clinical Genome Resource (ClinGen) has officially recognized the Haemoglobinopathy Variant Curation Expert Panel (VCEP) as a ClinGen Expert Panel for the clinical interpretation of variants related to haemoglobinopathies. The Haemoglobinopathy VCEP is a joint international and multidisciplinary effort between the ITHANET portal and the Human Variome Project’s Global Globin Network. Briefly, ClinGen VCEPs are tasked with providing disease- and gene-specific adaptations to the 2015 ACMG/AMP sequence variant interpretation guidelines, interpreting variants according to these rules, and publishing these interpretations in ClinVar. It is important to emphasize that ClinGen assertions in ClinVar are recognized by the FDA. It is therefore a great achievement to be recognized as a ClinGen Expert Panel. Having successfully completed step 1 of the application process, the Haemoglobinopathy VCEP has adapted the ACMG/AMP framework for use in haemoglobinopathies and has already submitted the final set of the specified criteria after several rounds of revision, both internally and in discussion with the ClinGen Sequence Variant Interpretation Working Group (SVI WG).

For more information: ClinGen-affiliated Haemoglobinopathy VCEP, 2015 ACMP/AMP guidelines, HVP Global Globin 2020 Challenge