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

Known issue: The Networks classified tab may occasionally appear empty in error. Until the fix is implemented, please rely on the Related cases tab, which displays the relevant information.

• Curate Displays whether the variant exists in your Curate 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) maintained by your organization.

• MITOMAP (mtDNA variants) Shows a variant's status in MITOMAP. 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.