v1.5.3151 Release Notes

20 May 2020

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

  • Added section to CVA Portal user guide on how HGVS annotation on the variant page is derived

  • Most severe consequence type annotation moved into the overlapping gene cards (CZFE-1127)

Fixed

  • Fixed issue with AD session cache which was causing the application to get stuck in a loop. (CZFE-1211, CZFE-1226)

Known issues

  • Variant, Case and Genomic Region Searches do not currently return a result in the Gene Search results tab
  • It is not currently possible to filter variant search results by pathogenicity; we are working on this for future releases. The CVA gene page provides an overview of reported variants (those with a classification)

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 .