ClinVar aggregates information about genomic variation and its relationship to human health.

2024年12月14日 · ClinVar is a freely accessible, public archive of reports of human variations classified for diseases and drug responses, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed conditions, and the history of those assertions.

2025年1月15日 · When you search ClinVar, you are searching for variants, specifically the aggregate variant record (VCV), not for individual submissions (SCVs). For example: “Creation date” is the date that the VCV record was first created, not the date that an individual submission (SCV) was created.

2024年6月4日 · As part of NCBI's Entrez system, ClinVar can be accessed by E-utilities, both via web services and a UNIX command line as Entrez Direct. The subset of functions ClinVar currently supports are esearch, esummary, elink, and efetch.

Using the ClinVar variation display Using the ClinVar record display Comparing the variation and record displays FAQ Submit Submission overview Spreadsheets Instructions for spreadsheets Submission Portal FAQ for submissions Assertion criteria Expert panels and practice guidelines ...

2024年2月1日 · ClinVar calculates an aggregate classification for each of the three types of classifications – germline, somatic classification of clinical impact, and oncogenicity. ClinVar aggregates the values of each type of classification provided in submitted records (SCV) by the variant (VCV records) and by the variant/condition combination (RCV records).

2023年8月16日 · ClinVar is a freely accessible, public archive of reports of the relationships among genomic variants and phenotypes. To facilitate evaluation of the clinical significance of each variant, ClinVar aggregates submissions of the same variant, displays ...

ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location.

2023年4月3日 · ClinVar has evolved to not only include more variants, but to make it easier and faster to find and evaluate variant classifications from multiple sources. Example: Clinicians use ClinVar to provide better, faster patient care!

2015年5月18日 · Submissions to ClinVar are attributed to organizations (not to specific people), so you should register your organization in the ClinVar Submission Portal. In your registration, you can also list personnel from the organization who should be listed publicly for the organization and you can authorize other people from the organization to submit ...