What feature is being added or bug is being addressed?
Closes #222. This PR updates select-clinvar-submissions.R to retain only P,LP,B,LB, and VUS submissions when attempting to resolve ClinVar variants with conflicting interpretation.
What was your approach?
Removed all submissions for which ClinicalSignificance did not equal one of the above values.
What GitHub issue does your pull request address?
222.
Directions for reviewers. Tell potential reviewers what kind of feedback you are soliciting.
Which areas should receive a particularly close look?
Please re-run select-clinvar-submissions.R and ensure that ClinicalSignificance is only equal to P,LP,B,LB, or US in output.
@rebkau I think this will resolve the issue with the APC variant. Can you run AutoGVP on that sample and see if the correct call is made (LP, ClinVar)?
Purpose/implementation Section
What feature is being added or bug is being addressed?
Closes #222. This PR updates
select-clinvar-submissions.R
to retain only P,LP,B,LB, and VUS submissions when attempting to resolve ClinVar variants with conflicting interpretation.What was your approach?
Removed all submissions for which
ClinicalSignificance
did not equal one of the above values.What GitHub issue does your pull request address?
222.
Directions for reviewers. Tell potential reviewers what kind of feedback you are soliciting.
Which areas should receive a particularly close look?
Please re-run
select-clinvar-submissions.R
and ensure thatClinicalSignificance
is only equal to P,LP,B,LB, or US in output.Is there anything that you want to discuss further?
I will submit a separate PR to make sure that variants with "unconventional" ClinVar clinical significance (see [Variant ID 822](https://www.ncbi.nlm.nih.gov/clinvar/variation/822/?oq=822&m=NM_000038.6(APC):c.3920T%3EA%20(p.Ile1307Lys) as an example) are resolved by ClinVar during AutoGVP run.
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