Knowledge is more valuable when shared. By contributing this resource to the wider research community
we want to increase the quality and utility of genetic data available to all.
CLINVITAE is a database of clinically-observed genetic variants aggregated from public sources.
It is operated and made freely available by INVITAE.
Current Database Sources
To make CLINVITAE as informative as possible, we aggregate the data from multiple public databases.
Our goal is to simplify the search for clinically- interpreted variants by creating a single
unified resource. We want clinicians and researchers to save time, compare variants across
multiple platforms, and fully utilize the available data.
If you are part of a laboratory interested in getting involved with CLINVITAE, please contact
clinical@invitae.com or call 1-800-436-3037 for further information.
Patient Consent
All variants interpreted by INVITAE have been added to public databases with patient consent.
Patient consent to contribute their de-identified variants to public databases was obtained
during the test ordering process.
Variant Interpretations
The database reports variant interpretations as provided by the original source, with no
consolidation of results, and always has a link out to the original reference.
While we display the variants and interpretations as originally reported in the variant databases,
some variants in the same genes have been reported on different transcripts. Whenever possible,
CLINVITAE will attempt to map all variants in a particular gene to a common transcript to aid in
viewing and organizing the variants. However, to aid in variant searches, we will also continue
to report the original mapping information.
All interpretations were performed by the original submitters and have not been modified in any way.
As such, there might be discordant interpretations for the same variant from different archives.
For further information or to request a review of the variant, please contact the submitter of
the original reference.
Data Accessibility
The entirety of the CLINVITAE database, as well as individual search results, is freely
available to download in a zipped, TSV-formatted file that will be readable by most text
editors and spreadsheet software.
We also provide a REST API for integration into third-party applications.
Contact
We invite feedback and comments to help us improve this site. Contact us at
clinical@invitae.com or 1-800-436-3037.
Disclaimer
CLINVITAE is not intended for direct diagnostic use or medical decision-making.
If you have any health questions about the information contained on this website,
please contact a medical professional.
Variant interpretations are not static as they are based on the current understanding of the
variant at the time it was observed in a patient or in the literature. Any reported interpretation
may not be up-to-date, and some information may not be reported. Many interpretations will
change over time as more information about the variant becomes available. If you have any
questions about a variant interpretation or would like use any variant interpretations for
publication purposes, please contact the submitter of the original reference.