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Known Issues
KNOWN ISSUES in beta test BRCA Exchange Last Updated: September 5, 2018
To report new issues, please email [email protected].
We have identified the following issues:
Variant data:
The ENIGMA consortium has recently submitted a number of new variant interpretations to ClinVar. We are currently in the process of refactoring our ENIGMA submission pipeline, and do not yet show those new interpretations on the ENIGMA tile. We do show those interpretations on the ClinVar tile in the All Public Data portal
There are structural variants with ambiguous breakpoints in LOVD that we are not yet including in BRCA Exchange. We are working with the GA4GH Genomic Knowledge workstream to assess best practices in representing the genomic coordinates of these variants.
Data Pipeline:
User Interface: