Variant Interpretation Policy
- PreventionGenetics offers free sequence variant interpretation for any variant in any clinically relevant gene. Requests must be submitted through our web portal.
- PreventionGenetics intends to publish as much variant interpretation information as possible in peer reviewed journals. We are eager to work with investigators throughout the world to prepare such publications. We have already co-authored many such manuscripts (see our publications).
- PreventionGenetics does not utilize informatics approaches alone to interpret sequence variants. We think that the only acceptable interpretation approach is careful, expert, manual evaluation of the evidence, primarily published evidence. This is the approach that PreventionGenetics takes and at which we excel.
- PreventionGenetics has already contributed many thousands of sequence variants to ClinVar and other public databases, and intends to contribute more in future.