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{"id":12144,"date":"2023-09-20T10:35:46","date_gmt":"2023-09-20T14:35:46","guid":{"rendered":"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/?p=12144"},"modified":"2023-09-20T10:35:46","modified_gmt":"2023-09-20T14:35:46","slug":"clinvar-partners-with-clingen","status":"publish","type":"post","link":"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2023\/09\/20\/clinvar-partners-with-clingen\/","title":{"rendered":"ClinVar Partners with ClinGen to Review & Curate Submitted Records"},"content":{"rendered":"<p><span data-contrast=\"auto\">Do you currently use or submit clinical variation data? NCBI now has a new mechanism to improve <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?utm_source=ncbi_insights&utm_medium=referral&utm_campaign=clinvar-clingen-partners-20230920\"><span data-contrast=\"none\">ClinVar<\/span><\/a><span data-contrast=\"auto\"> data quality. Since ClinVar’s founding over 10 years ago, the amount of information in this free resource has expanded dramatically with submissions from research and clinical laboratories all over the world. Because of the large volume of data and the importance of data quality, we are working with <\/span><a href=\"https:\/\/clinicalgenome.org\/\"><span data-contrast=\"none\">ClinGen<\/span><\/a><span data-contrast=\"auto\"> biocurators to address problematic records for variants that do not require the efforts of an expert panel.<\/span><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":0,"335559740":240}\">\u00a0<\/span><\/p>\n<h5>What\u2019s new?<\/h5>\n<p><span data-contrast=\"auto\">ClinVar and ClinGen have established a new process for ClinGen biocurators to review submitted records in ClinVar. A problematic record will be curated by ClinGen as a candidate to be flagged in ClinVar. We will notify relevant submitters giving them an opportunity to review and update their data. If the submitter does not provide an update, the problematic record will be flagged in ClinVar, so that it does not contribute to the overall classification. The record, however, will remain accessible in the database (Figure 1). This will reduce the number of variants with a conflict in the classification and improve the accuracy of the ClinVar dataset.\u00a0<\/span><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":0,"335559740":240}\">\u00a0<\/span><!--more--><\/p>\n<p><img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" data-attachment-id=\"12151\" data-permalink=\"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2023\/09\/20\/clinvar-partners-with-clingen\/clinvar_flagged_records_screenshot\/\" data-orig-file=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?fit=1316%2C249&ssl=1\" data-orig-size=\"1316,249\" data-comments-opened=\"1\" data-image-meta=\"{"aperture":"0","credit":"","camera":"","caption":"","created_timestamp":"0","copyright":"","focal_length":"0","iso":"0","shutter_speed":"0","title":"","orientation":"0"}\" data-image-title=\"ClinVar_Flagged_Records_Screenshot\" data-image-description=\"\" data-image-caption=\"\" data-medium-file=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?fit=300%2C57&ssl=1\" data-large-file=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?fit=1024%2C194&ssl=1\" class=\"alignright size-full wp-image-12151\" src=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?resize=1108%2C210&ssl=1\" alt=\"Screenshot of flagged records in ClinVar\" width=\"1108\" height=\"210\" srcset=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?w=1316&ssl=1 1316w, https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?resize=300%2C57&ssl=1 300w, https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?resize=1024%2C194&ssl=1 1024w, https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?resize=150%2C28&ssl=1 150w, https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?resize=768%2C145&ssl=1 768w, https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?resize=1200%2C227&ssl=1 1200w, https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2023\/09\/ClinVar_Flagged_Records_Screenshot.png?resize=270%2C51&ssl=1 270w\" sizes=\"auto, (max-width: 1108px) 100vw, 1108px\" \/><span style=\"font-size: 16px;\"><i>Figure 1: Example of a problematic record that would be flagged in ClinVar. (Note: This is test data.) <\/i>\u00a0<\/span><\/p>\n<p><b><span data-contrast=\"auto\">Common reasons for a record to be flagged include:<\/span><\/b><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":0,"335559740":240}\">\u00a0<\/span><\/p>\n<ul>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"2\" data-list-defn-props=\"{"335552541":1,"335559684":-2,"335559685":720,"335559991":360,"469769226":"Symbol","469769242":[8226],"469777803":"left","469777804":"\uf0b7","469777815":"hybridMultilevel"}\" aria-setsize=\"-1\" data-aria-posinset=\"1\" data-aria-level=\"1\"><span style=\"font-size: 18px;\">Older records that are missing recent evidence compared to newer submitted records\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"2\" data-list-defn-props=\"{"335552541":1,"335559684":-2,"335559685":720,"335559991":360,"469769226":"Symbol","469769242":[8226],"469777803":"left","469777804":"\uf0b7","469777815":"hybridMultilevel"}\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span style=\"font-size: 18px;\">Outlier records that conflict with most other submitted records without providing evidence to support the conflicting claim\u00a0\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"2\" data-list-defn-props=\"{"335552541":1,"335559684":-2,"335559685":720,"335559991":360,"469769226":"Symbol","469769242":[8226],"469777803":"left","469777804":"\uf0b7","469777815":"hybridMultilevel"}\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span style=\"font-size: 18px;\">Records that cause a conflict based on interpretation for a condition that is not the primary or most relevant disease association for the gene\u00a0<\/span><\/li>\n<\/ul>\n<h5>What\u2019s Next?<\/h5>\n<p><span data-contrast=\"auto\">Some problematic records can be identified automatically without the need for manual curation by the ClinGen biocurators. For example, some records are submitted as novel when they were intended to be updates to existing records. For these cases, we are developing an automated process to alert submitters to the duplicate records, request an update, and flag the record if it\u2019s not updated.\u00a0<\/span><span data-ccp-props=\"{"134233117":false,"134233118":false,"201341983":0,"335559738":150,"335559739":0,"335559740":240}\">\u00a0<\/span><\/p>\n<h5>Learn More<\/h5>\n<p><span data-contrast=\"auto\">Learn how to submit your data to ClinVar! For more information about\u202fClinVar\u202fand for step-by-step instructions on how to use it, check out our <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/docs\/curation\/?utm_source=ncbi_insights&utm_medium=referral&utm_campaign=clinvar-clingen-partners-20230920#flagged\">Help Documentation<\/a>.\u202f\u202f<\/span><span data-ccp-props=\"{"134233117":false,"134233118":false,"201341983":0,"335559738":150,"335559739":0,"335559740":240}\">\u00a0<\/span><\/p>\n<h5>Stay up to date<\/h5>\n<p><span data-contrast=\"auto\">Follow us on social\u202f<\/span><a href=\"https:\/\/twitter.com\/ncbi\"><span data-contrast=\"none\">@NCBI<\/span><\/a><span data-contrast=\"none\">\u202f<\/span><span data-contrast=\"auto\">and<\/span><span data-contrast=\"none\">\u202f<\/span><a href=\"https:\/\/public.govdelivery.com\/accounts\/USNLMOCPL\/subscriber\/new?topic_id=USNLMOCPL_52\"><span data-contrast=\"none\">join our mailing list<\/span><\/a><span data-contrast=\"none\">\u202f<\/span><span data-contrast=\"auto\">to<\/span> <span data-contrast=\"auto\">keep up to date with\u202fClinVar\u202fand other NCBI news.\u202f\u202f<\/span><span data-ccp-props=\"{"134233117":false,"134233118":false,"201341983":0,"335559738":150,"335559739":0,"335559740":240}\">\u00a0<\/span><\/p>\n<h5>Questions?<\/h5>\n<p><span data-contrast=\"none\">If you have questions or would like to provide feedback, please\u00a0<\/span><a href=\"https:\/\/support.nlm.nih.gov\/support\/create-case\/\"><span data-contrast=\"none\">write to our help desk<\/span><\/a><span data-contrast=\"none\">.\u00a0\u00a0<\/span><span data-ccp-props=\"{"134233117":false,"134233118":false,"201341983":0,"335559738":0,"335559739":0,"335559740":240}\">\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Do you currently use or submit clinical variation data? NCBI now has a new mechanism to improve ClinVar data quality. Since ClinVar’s founding over 10 years ago, the amount of information in this free resource has expanded dramatically with submissions from research and clinical laboratories all over the world. Because of the large volume of … <a href=\"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2023\/09\/20\/clinvar-partners-with-clingen\/\" class=\"more-link\">Continue reading <span class=\"screen-reader-text\">ClinVar Partners with ClinGen to Review & Curate Submitted Records<\/span> <span class=\"meta-nav\">→<\/span><\/a><\/p>\n","protected":false},"author":42204617,"featured_media":12146,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","enabled":false},"version":2}},"categories":[2248],"tags":[108204782],"table_tags":[],"class_list":["post-12144","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-whats-new","tag-clinvar"],"jetpack_publicize_connections":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>ClinVar Partners with ClinGen to Review & Curate Submitted Records - NCBI Insights<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2023\/09\/20\/clinvar-partners-with-clingen\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ClinVar Partners with ClinGen to Review & Curate Submitted Records - NCBI Insights\" \/>\n<meta property=\"og:description\" content=\"Do you currently use or submit clinical variation data? NCBI now has a new mechanism to improve ClinVar data quality. Since ClinVar’s founding over 10 years ago, the amount of information in this free resource has expanded dramatically with submissions from research and clinical laboratories all over the world. 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