Clinical significance tab

The Clinical Significance tab provides essential variant-level and gene-level details to help you evaluate a variant’s potential pathogenicity. It combines AI-driven insights with curated public data for informed interpretation.

Information is organized into the following cards:

• Variant info: Displays key details such as HGVS nomenclature, predicted effect, variant type, zygosity, and links to external databases.

• In silico predictions: Shows individual tool results and algorithmic predictions for missense, conservation, and splicing effects.

• Gene metrics: Summarizes gene’s level of intolerance to different types of variation.

• Clinical significance: Highlights previous pathogenicity classifications from your lab and public sources.

• Gene-related diseases: Lists known gene–disease associations with inheritance patterns and source links.