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Variant Interpretation Video Tutorial
Variant Interpretation Video Tutorial

Upgrading you variant search to a clinical case, Selecting Variant Clinical Significance and more

Updated over a week ago

Upgrade Your Variant Search to a Clinical Case

Franklin strives to provide better clinical interpretation results for our community members, based on specific cases and patient details.

To automatically customize your variant data, simply answer some simple questions to add your specific case details.

When starting to interpret the variant, all case details are displayed in the sidebar to aid you in the assessment process.

The displayed annotation and classification will be adjusted according to these details. This will help accelerate the interpretation process. For example, Franklin will suggest the most fitting patient condition based on the phenotypes and variant zygosity, or highlight the patient sub-population frequency from selected databases.

Save your cases

To review a specific case later, or to share it with your selected teammates, simply name and save it. This will add it to your own cases repository, accessible under the ‘my cases’ tab.


Selecting Variant Clinical Significance

In addition to classifying, Franklin now allows you to assign clinical significance to variants in the case’s workbench when analyzing a case.

Determine whether a variant in your case is the 'causal variant', whether it falls under 'additional findings' or whether it’s not relevant at all.

Simply drag and drop the variant from the list on the workbench into the relevant category in order to assign its clinical significance.


New and improved classification colors

To simplify the process of reviewing multiple variants and their classifications, Franklin assigns each ACMG \ AMP classification its own color. In consideration of the visually impaired, we recently modified our color pallet to a new one with higher contrast between different classification colors. We hope you will love it. Read more

Still have questions? Reach out to our Support Team, they'll be happy to help!

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