clinvitae.invitae.comCLINVITAE - Search for genes

//-- About BETA OPTIONS Sources: Arup ClinVar EmVClass Carver Lab kConFab Invitae Classifications: Pathogenic Likely Benign Uncertain Significance Likely Pathogenic Benign Association Not Provided Apply Export No results CL INVITAE is a database of clinically-observed genetic variants aggregated from public sources, operated and made freely available by INVITAE. 729374 Variants. 12131 Genes. Download the Database. Join the Open Access Revolution INVITAE is a supporter of Free the Data!, a grassroots movement where patients, physicians, and researchers are contributing their genetic variants to support genetics research, advance the understanding of disease, and enhance treatment options. If you're a patient or physician interested in getting involved, visit them at free-the-data.org . If you're part of a clinical or academic laboratory who believes in open access, please contact us at clinical@invitae.com or 1-800-436-3037. Current Database Sources Invitae ClinVar Emory Genetics Laboratory Variant Classification Catalog ARUP Mutation Databases Carver Mutation Database Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer Our commitment to Patient Care INVITAE is committed to making our clinically-observed variants publicly available. We have submitted variants to ClinVar and CL INVITAE and will continue to do so on a routine basis. © INVITAE. All rights reserved Privacy Terms of use 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. CL INVITAE 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 CL INVITAE 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. Invitae ClinVar Emory Genetics Laboratory Variant Classification Catalog ARUP Mutation Databases Carver Mutation Database Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer If you are part of a laboratory interested in getting involved with CL INVITAE , 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, CL INVITAE 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 CL INVITAE 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. Download the Database 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 CL INVITAE 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. Gene Nucleotide Change Reported Classification Source Description CLOSE...