v1.2.42 Release Notes

01 September 2019

Summary

Clinical Variant Ark (CVA) Portal is the visual gateway into the knowledge base built from rare disease cases and variants within the Genomics England Interpretation Platform.

You can access CVA Portal, using your existing Genomics England username and password here: cva.genomicsengland.nhs.uk

New features and improvements

  • The count of cases with a variant that are still to be reported has been moved to make it clearer (CZFE-639)

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  • Added a message to inform users where no comments have been added to a case’s Summary of Findings (CZFE-211)

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  • The search by HGNC gene symbol is now case insensitive so “APOE” and “apoe” return the same search results (IP-3744)
  • A “Favicon” has been added (CZFE-365)

Fixed

  • Bug with search logic combining gene search with reported gene filter (CZFE-590)
  • Bug in the display of variant pathogenicity icon in variant search results was not always correct when variant was present in multiple cases (CZFE-665)
  • Resolved errors in loading CVA Portal pages in Internet Explorer 11 (CZFE-727)
  • Bug where error message (“variant / case not found”) displays briefly when a page loads (CZFE-653, CZFE-620)
  • Bug in “clear all filters” on search results page also clears search parameter (CZFE-619)
  • The names of applied filters with long names e.g. Panels and Disorders are no longer truncated when applied (CZFE-600)

Known issues

  • It is not currently possible to filter variant search results by pathogenicity; we are working on this for future releases
  • Some pages are taking a while to load (>15 secs), we are looking into performance enhancements
  • There remains an issue with IE11 whereby some of the filters do not display correctly. If you encounter this issue, please altering your browser zoom level or try Chrome or Firefox browsers (CZFE-744)

Access

  • CVA Portal BETA can be accessed on the HSCN network here cva.genomicsengland.nhs.uk

Providing feedback

We have been developing the CVA Portal with input on requirements from a number of different users from GMCs and GeCIPs, if you would like to be involved please contact the Genomics England Service Desk .