ClinVar Unveils New, More Intuitive Variation Display


ClinVar, NCBI’s database of clinically relevant genetic variations with supporting evidence, has redesigned its variation display, and welcomes your feedback. The new Variation in ClinVar (VCV) pages provide a better-organized, more-intuitive web display that makes it easy to quickly find the information you need.

In this blog post, we’ll take you through the new design using the example of a coding region variant (VCV000256160.1) in the ABCB4 gene.

ClinVar variation page alpha view. Accession number & feedback tab are circled to highlight them.

The redesign brings the most important information to the top of the display. There are two new fields: (1) the VCV accession number and version used to cite the record, and (2) a short description of the variation (e.g., 11.3 kb deletion, or haplotype) to make it easy to quickly see what type of variation the record represents.

Beneath that, three tabs – “Variant details”, “Conditions”, and “Gene(s)” – help you to focus on details about the variation, conditions reported for the variation, and the affected gene(s).

three tabs – “Variant details”, “Conditions”, and “Gene(s)”

The “Conditions” tab has two major improvements.

First, the tab displays each disease for which the variation has been interpreted and its interpretation. Among other things, this display can help you recognize when interpretations conflict for different diseases but not the same disease.

Second, this tab also shows a list of phenotypes observed in individuals with the variant. The phenotypic data is particularly useful for structural variants where the precise relationship between the variant and a set of observed phenotypes is not clear.

Submitted interpretations and evidence table

Next is a table, “Submitted Interpretations and evidence”, that summarizes information for each submitted record. This table includes the most important information for each submission, and shows a comment on the clinical significance from the submitter, when available. This table also has a link to an evidence page with many more details.

The top of the evidence page provides the same aggregate information as the Variation page, followed by a large data table of evidence. Here you can see aggregate-level or individual-level data provided as evidence. These may include several types of data used to classify variants.

Citations for the variant

The final section of the VCV page is a table of all citations that have been reported to ClinVar for the variation. The table has the title, author, journal, year of publication, and PubMed ID for easy scanning through a list of citations.

We are engaged in usability testing now to help us to improve to the display. Your feedback is always welcome. Please send questions, comments, and suggestions to clinvar@ncbi.nlm.nih.gov.

2 thoughts on “ClinVar Unveils New, More Intuitive Variation Display

  1. Pingback: ClinVar Unveils New, More Intuitive Variation Display – Science

  2. Pingback: Weekly Postings | The MARquee

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