UCT Neurogenomics African ClinVar submission drive - Applications due by 6 June 2025

The UCT Neurogenomics lab with the ClinVar team will be hosting an African ClinVar submission drive in July 2025. The workshop is designed to support African labs in submitting germline variants (SNVs and indels) to ClinVar, a global genomic database.

Applications are now open and will close on 6 June 2025. This link can be used to apply!

More info in this pdf: 

A note about ClinVar and the sensitivities around sharing genomic data:

ClinVar is a public database storing information about the relationship between human genetic variants and health outcomes. 

What is submitted to ClinVar?

• Variant level data (the genetic changes that were identified through genetic testing of a cohort) 
• What the genetic changes mean (the interpretation of the variant, if it is disease causing/unknown/benign) 
• The reasoning or supporting evidence

Researchers won’t be sharing any samples, raw data, personal data from participants, or research ownership. 

The variant data submitted will be attributed to the lab/organization it’s from. Submitting to ClinVar is one way in which African researchers can get visibility and authority over their own variant interpretations, it increases their lab’s visibility and supports better interpretations for African populations.

The UCT Neurogenomics Lab’s main goal for sharing their curated variant data is to help African patients. Our patients and their families share their DNA to a) seek a possible genetic diagnosis for themselves and b) help the global effort to understand their disease (which may help others like them to get a genetic diagnosis in future). 

Rare diseases specifically are a team effort- sharing a rare variant from an African patient could “match” with a patient somewhere else in the world and thereby give both patients an answer.