ClinGen / gene-and-variant-curation-tools

ClinGen's gene and variant curation interfaces (GCI & VCI). Developed by Stanford ClinGen team.
https://curation.clinicalgenome.org/
MIT License
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Investigate scoring in GCI entry #210

Closed cgpreston closed 2 years ago

cgpreston commented 2 years ago

From the HT GCEP:

The Hemostasis/Thrombosis GCEP noticed that the curation of SLFN14 on the website does not show any points (though points were awarded). Here is the link to the curation on the website https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f31ec838-fc84-47a2-9341-1fe494788a09-2021-01-27T170000.000Z

I can see in the Saved Provisional and Approved Classification history (https://curation.clinicalgenome.org/provisional-curation/83f36879-de78-46f3-9bc3-28d4800ee56d) that the first two times it was saved as provisional (in January and February 2021) the points were captured in the scoring matrix. However, the third time it was saved provisional (April 2021) points were no longer captured in the matrix, but still showed up on each piece of evidence listed below the matrix (I’ve attached this version of the summary). The only difference there should have been on this new provisional summary was that the GCEP decided to modify the classification so the “Reason for modified classification” text was added but points remained the same and should still have been captured on the summary. Since points weren’t captured the last time is was saved as provisional when it was approved and published, in November 2021, the points also didn’t show up.

We've advised them to rescore.