v1.5.3190 Release Notes

08 July 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 link on the variant table of the CVA case view page that gives access to "Variant Interpreation Logs" (VIL)

Image

NOTE: Production CVA does not yet contain any VIL data from 100K project - extraction of VIL data is being co-ordinated over the coming months

Fixed

  • Fixed issue "gene clashes" that meant some cases failed to send to CVA automatically (CZFE-1217)

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 .