ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical testing laboratories, research laboratories, expert panels and other groups. ClinVar aggregates data by variant-disease pairs, and by variant (or set of variants). Data aggregated by variant are accessible on the website, in an improved set of variant call format files and as a new comprehensive XML report. ClinVar recently started accepting submissions that are focused primarily on providing phenotypic information for individuals who have had genetic testing. Submissions may come from clinical providers providing their own interpretation of the variant (‘provider interpretation’) or from groups such as patient registries that primarily provide phenotypic information from patients (‘phenotyping only’). ClinVar continues to make improvements to its search and retrieval functions. Several new fields are now indexed for more precise searching, and filters allow the user to narrow down a large set of search results.

中文翻译：

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ClinVar：改善获取变体解释和支持证据的途径

ClinVar（https://www.ncbi.nlm.nih.gov/clinvar/）是美国国家卫生研究院（National Institutes of Health）维护的可免费获得的，关于人类遗传变异及其对疾病重要性的解释的公共档案。临床试验实验室，研究实验室，专家小组和其他小组对变体的临床意义进行了解释。ClinVar通过变体疾病对和变体（或变体集）聚合数据。可以在网站上以改进的变体调用格式文件集和新的综合XML报告的形式访问按变体聚合的数据。ClinVar最近开始接受主要针对为进行基因检测的个人提供表型信息的论文。提交的内容可能来自提供自己对变体的解释的临床提供者（“提供者解释”），也可能来自主要提供患者表型信息的患者注册表等组（“仅表型”）。ClinVar继续改进其搜索和检索功能。现在为几个新字段建立了索引，以进行更精确的搜索，并且过滤器使用户可以缩小大量搜索结果的范围。