> For the complete documentation index, see [llms.txt](https://help.bioinsight.illumina.com/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://help.bioinsight.illumina.com/emedgene/emedgene-analyze-manual/variant_page/clinical_significance_section/clinical-significance.md).

# Clinical significance

The Clinical significance card provides insights into how a variant has been classified previously—both within your organization and across public databases. This helps you quickly assess existing interpretations and decide whether additional evidence is needed.

## Pathogenicity classification sources

* **Manually classified**

  Indicates if the variant was classified in any previous case in the account
* **Networks classified**

  Shows if the variant was classified by partner organizations in your [network](/emedgene/emedgene-analyze-manual/analyze_network.md)

{% hint style="danger" %}
**Known issue:** The **Networks classified** tab may occasionally appear empty in error. Until the fix is implemented, please rely on the [Related cases tab](/emedgene/emedgene-analyze-manual/variant_page/related_cases_section.md), which displays the relevant information.
{% endhint %}

* **Curate**\
  Displays whether the variant exists in your [Curate](broken://pages/JHmO0TJUuneVcw5IzKwJ) variant database
* **ClinVar**

  Lists ClinVar submissions for the variant
* **ClinGen Regions** (CNVs)\
  Indicates whether a variant overlaps a dosage-sensitive region defined by ClinGen
* **Organization database**\
  Shows classifications from [curated variant database(s)](/emedgene/emedgene-analyze-manual/settings/organization_settings_-330+/workbench-and-pipeline/organization-db-management/organization-databases.md#curated-database) maintained by your organization.
* **MITOMAP** (mtDNA variants)\
  Shows a variant's status in [MITOMAP](https://academic.oup.com/nar/article/24/1/177/2359869). By clicking on the MITOMAP interactive link, you will be taken to [MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: Coding and Control Region Point Mutations](https://www.mitomap.org/foswiki/bin/view/MITOMAP/MutationsCodingControl).


---

# Agent Instructions
This documentation is published with GitBook. GitBook is the documentation platform designed so that both humans and AI agents can read, navigate, and reason over technical content effectively. Learn more at gitbook.com.

## Querying This Documentation
If you need additional information that is not directly available in this page, you can query the documentation by asking a question.

Perform an HTTP GET request on the following URL with the `ask` and `goal` query parameters:

```
GET https://help.bioinsight.illumina.com/emedgene/emedgene-analyze-manual/variant_page/clinical_significance_section/clinical-significance.md?ask=<question>&goal=<user_goal>
```

`ask` is the immediate question: it should be specific, self-contained, and written in natural language.
`goal` is what the user is ultimately trying to achieve, the reason they need the answer. Sharing it helps GitBook give you a better, more relevant answer. A goal is most helpful when it describes the outcome the user wants rather than restating the question. For example, with `ask=how do I create an API token`, a goal like `automate deployments from our CI pipeline` lets GitBook tailor the answer to that use case.

The response will contain a direct answer to the question and relevant excerpts and sources from the documentation.

Use this mechanism when the answer is not explicitly present in the current page, you need clarification or additional context, or you want to retrieve related documentation sections.
