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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8582959PMC
http://dx.doi.org/10.1590/0037-8682-0457-2021DOI Listing

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Article Synopsis
  • A study compared the ABC and ACMG variant classification systems using 10 challenging cases, involving 43 European clinical laboratories, to determine how each system influences variant reporting and clinical utility.
  • Although the ACMG system is primarily for assessing pathogenicity rather than reporting, it still affects reporting in many labs, leading to some noted differences in how variants are classified and communicated.
  • The comparison revealed that ABC-based classifications tend to be clearer and more adaptable to clinical questions, allowing for more context-appropriate reporting of variants, unlike ACMG which can mislabel variants in certain clinical scenarios.
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