Invitae submits clinically observed variants with their pathogenicity classifications and the date of that classification. Importantly, a summary of the underlying evidence for and against pathogenicity is also provided for each variant, with some exceptions:
- Evidence descriptions have not been included for most submitted benign or likely benign variants. We intend to add these descriptions in the near future.
- Some older classified variants do not have evidence descriptions submitted.
- Variants without classifications do not include evidence descriptions.