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Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar.
Genome Medicine ( IF 12.3 ) Pub Date : 2019-11-21 , DOI: 10.1186/s13073-019-0688-9
Steven M Harrison 1, 2 , Heidi L Rehm 1, 2, 3
Affiliation  

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.

中文翻译:

“可能致病”真的有90%的可能性吗?ClinVar中的重分类数据。

2015年,专业准则将“可能致病”一词定义为具有90%的致病性机会。为了确定当前的实践是否反映了这一定义,从2016年到2019年追踪了ClinVar分类。在此期间,根据是否包括LP到VUS的重新分类以及这些分类的方式,将83.8%至99.1%的可能的病原分类重新分类为病原。归类。
更新日期:2020-04-22
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