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

Add Variant origin to the clinvar statements #8

Open
larrybabb opened this issue Jan 9, 2023 · 1 comment
Open

Add Variant origin to the clinvar statements #8

larrybabb opened this issue Jan 9, 2023 · 1 comment
Labels
enhancement New feature or request

Comments

@larrybabb
Copy link
Collaborator

From Epic on Jan 4, 2023...
Can you add Variant origin to the clinvar statements?

@larrybabb larrybabb assigned larrybabb and unassigned larrybabb Jan 9, 2023
@larrybabb larrybabb added the enhancement New feature or request label Jan 9, 2023
@larrybabb
Copy link
Collaborator Author

We can add this, but we are not certain if this is something that should be prioritized. We would like more feedback on how and why this field is important to users.

The issue is that ClinVar does not provide a strong and consistent representation of variant origin or allele origin. The submitting sources use this for different purposes and there can also end up being multiple values for a single submission and variant.

If we were to share what ClinVar has it would be shared in the statement extensions field and we would share the comma-separated set of values that clinvar displays in the Allele Origin field within the individual SCV listings.

See this SCV for an example of a multiple value allele orgin value

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

No branches or pull requests

1 participant