You are invited by ESHG to participate in a study comparing ACMG and ABC based variant classification, and to explore the usefulness of the standard variant comments of the ABC system. This is an investigation of inter-laboratory consistency and clinical usefulness. To this end, 10 cases have been selected for ACMG and ABC classification (.docx file enclosed).
ABC-classification is based on the system illustrated in the 2021 publication in the Eur J Hum Genet (Open Access, see https://www.nature.com/articles/s41431-021-00903-z).
Information is also available at the ESHG web site: https://www.eshg.org/news-home/stepwise-abc-system-variant-classification-of-any-type-of-genetic-variant
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