ClinGen Evidence Repository
收藏知名数据库2026-06-26 收录
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ClinGen Evidence Repository 是一个FDA认可的人类遗传变异数据库，包含专家审核的关于变异致病性及其支持证据的总结。该数据库收录了12,755个经过整理的变异，分布在171个基因中，并按照致病性分类为良性、可能良性、意义未明、可能致病和致病等类别。数据库提供按基因、专家小组和疾病条件浏览功能，并支持高级搜索和API访问。
The ClinGen Evidence Repository is a FDA-recognized human genetic variation database that hosts expert-curated summaries of variant pathogenicity and their supporting evidence. This database includes 12,755 curated variants across 171 genes, and categorizes them into five pathogenicity classes: benign, likely benign, variant of uncertain significance (VUS), likely pathogenic, and pathogenic. The database provides browsing functions by gene, expert panel and disease condition, and supports advanced search and API access.
