v1.2.83 Release Notes

01 October 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

  • “Gene Page” added with basic meta information included (CZFE-729)

Image

  • An icon has been added to all the side bars (CZFE-722)
  • Link added to the “Gene Page” from the variant list on the “Case Page” (CZFE-754)
  • Link added to the “Gene Page” from the “Variant Page” via the overlapping gene tile (CZFE-752)
  • The version of the front-end code has been added to the footer page (CZFE-673)
  • Links to ClinVar now shown on the “Variant Page” (CZFE-649)

Fixed

  • NA

Known issues

  • It is not currently possible to filter variant search results by pathogenicity; we are working on this for future releases
  • Searching for genes will return cases where the case has a CNV called however, it is not currently possible to view CNV results in CVA
  • 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 .