v1.5.2883 Release Notes

09 March 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

  • The list of cases on the variant page has been restructured. It is now clearer how the variant was classified in the cases that have it, and includes the probands zygosity.

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  • A new API endpoint has been added to return Cancer outcomes questionnaires

  • The "To Be Reviewed" count under cases by pathogenicity has been removed from the variant page to make it clearer what is shown

Fixed

  • The incorrect count of cases with a variant on the variant page has been fixed

  • The case list on the variant page now loads for very common variants in CVA

  • General improvements to data completness after completing a data audit

Known issues

  • The Interpretation Service variant count on the variant page is showing zeros
  • 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

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 .