Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

remove VUS, it's a duplicate of uncertain significance #232

Open
wants to merge 1 commit into
base: hotfix-1.5.x
Choose a base branch
from

Conversation

julie-sullivan
Copy link
Contributor

This query: https://ws.zettagenomics.com/cellbase/webservices/rest/v5/hsapiens/clinical/variant/clinsigLabels

returns the labels in evidence.avdl, It returns VUS however VUS means the same thing as "uncertain_significance" so this is a duplication.

In the clinvar parser, variants with the VUS signficance are discarded. I've updated this in v4 (and will make a PR for v5) to parse VUS variants as "uncertain_significance"

But I need this duplicate removed first.It's not a valid label to search on.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

Successfully merging this pull request may close these issues.

1 participant