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

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New features and improvements

• The URL to a single case in CVA has changed from "/cases/{caseId}" to "/case/{caseId}" i.e. its no longer plural.

  If you have existing bookmarks or links to CVA case pages these will still work, you will just get automatically re-directed from the old "cases" URL to the new "case".

  This makes the case URL more consistent with the "variant" and "gene" URLs which are singular

• We have made it clearer on the gene page how variant consequence types are determined by providing a link to the online documentation detailing how a transcript is selected

Fixed

• In the GMS-BETA instance of CVA you can now search for cases using the GMS Patient and Referral IDs

• Logic that includes variants in the Summary of Findings and Outcomes Questionnaire side bars simplified so variants are always displayed if present

• Cases and variants overlapping tiered CNVs are no longer returned by search results

Known issues

• 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