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Classification of Genetic Variants

The MGZ classifies sequence variants according to the recommendations of the American College for Medical Genetics and Genomics (ACMG Guidelines, Richards et al., Genetics in Medicine, 2015). Variants not included in this scheme (e.g., intronic variants with a potential effect on correct splicing) are assessed with a classification system based on the guidelines published by Houdayer et al. (Hum Mutat, 2013) in order to prioritize variants for further analyses.