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  • Is 'likely pathogenic' real...
    Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar
    Harrison, Steven M; Rehm, Heidi L

    Genome medicine, 11/2019, Letnik: 11, Številka: 1
    Journal Article

    In 2015, professional guidelines defined the term 'likely pathogenic' to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, depending on whether LP to VUS reclassifications are included and on how these classifications are categorized.

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