Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
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Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."
"We are grateful to Helen Merrideth Robinson for her pioneering liaison efforts critical to establishing the Hemoglobinopathy VCEP, and to Sir John Burn for ongoing advice and support as Executive Chairman of the Human Variome Project. We also thank Steven M. Harrison, Leslie G. Biesecker, and the ClinGen SVI WG for reviewing the specified VCEP rules and for providing valuable feedback. This study is co‐funded by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation (Project: EXCELLENCE/1216/256)."
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Last Updated: Aug 05, 2025