v1.5.48 Release Notes

16 January 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

  • You can now navigate to the Gene Page in CVA via a search for a HGNC gene symbol e.g.

Image

Currently, gene search works with the approved HGNC symbols that are used in PanelApp.

Note, PanelApp may not have the latest gene symbols!

Fixed

  • Bug where some singleton Pedigrees were not loading on the case page

Known issues

  • In some Cases & Genes there is a mismatch in the Genome Assembly (GRCh37 vs GRCh38) which means the case and gene pages fail to load
  • 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 .