FAQs

How do I contact a lab about a case?

All cases in CVA portal list the laboratory who requested the test and where available details the person from that lab who created the Summary of Findings and the Reporting Outcomes Questionnaire.

If you'd like to contact a laboratory about a case or variant you have seen in the CVA Portal you can look up their details.

A complete listing of laboratories in the new GMS should become available in 2019.

How do I see only cases from my GMC / GLH?

Search results can be filtered by "requesting organisation" to filter only results from a particular GMC / GLH.

Can I see CNVs and STRs in CVA?

Not yet

What should I do if I can't find my patient in CVA or it is missing data?

Contact Genomics England Service Desk and quote the URL you are trying to access

Why do allele frequencies differ between CVA and the Interpretation Portal?

CVA and the interpretation portal (IP) obtain their allele frequency information from different sources. In CVA the maximum allele frequency is obtained from Cellbase, whereas the IP uses a different set of studies, including some GEL-generated datasets.

Why do we have benign variants in CVA?

We have benign (reported negative) to denote that "the results reported here DO NOT explain the genetic basis of the family’s presenting phenotype(s)