Background
CVA Portal is the visual gateway into the knowledge base built from rare disease cases and variants within the Genomics England Interpretation Platform. On the HSCN network you can access CVA Portal, using your existing Genomics England username and password here:
NOTE! Variants in CVA are those that have been prioritised by Interpretation Services e.g. Tiering and Exomiser
CVA has 3 Main Pages:
Case View
Provides an overview of a Rare Disease case in the knowledge base. The overview includes, where available the Summary of Findings and Reporting Outcomes Questionnaires and a list of phenotypically similar cases.
In addition it lists all the variants prioritised by the Interpretation Services applied to the case and whether these variants exist in other cases within CVA
Variant View
Provides an overview of variants in CVA and includes the reported ACMG classifications of that variant in cases from the Genomics England Interpretation Platform. From the Variant View you can see all other cases in the Genomics England Interpretation Platform that also have this variant prioritised by Interpretation Services applied to them
Gene View
Gene View provides an overview of all reported variants within a specific gene