{"entity":{"id":"clinvar","kind":"collection","name":"ClinVar","aka":[],"tldr":"Whether a genetic variant is thought to cause disease, according to the labs that have seen it.","summary":"ClinVar is the public archive of variant interpretations submitted by clinical laboratories, recording whether each variant is thought to be pathogenic, benign or of uncertain significance according to the labs that have seen it. It is maintained by NCBI and released as public domain data. Because submitters can disagree, ClinGen expert panels resolve conflicting interpretations, and the archive is essential for interpreting germline BRCA and Lynch syndrome variants. On OnCo it is linked to the technology Germline (hereditary) testing and the terms Variant of uncertain significance (VUS) and Germline vs somatic mutations, and it is cited by the bottleneck Inherited risk is mostly unidentified and the idea Test every possible mutation in every cancer gene so no result is 'uncertain'.","asOf":"2026-09-04","links":[{"label":"ClinVar","url":"https://www.ncbi.nlm.nih.gov/clinvar/"}],"tags":[],"related":[],"cancers":[],"sections":[],"technologies":["germline-testing"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["vus","germline-vs-somatic"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"url":"https://www.ncbi.nlm.nih.gov/clinvar/","holds":"Public archive of variant interpretations (pathogenic, benign, VUS) from clinical labs.","license":"Public domain","maintainer":"NCBI"},"route":"/collections/clinvar/","neighbours":{"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"term":[{"id":"germline-vs-somatic","kind":"term","name":"Germline vs somatic mutations","route":"/terms/germline-vs-somatic/"},{"id":"hgvs","kind":"term","name":"HGVS variant nomenclature","route":"/terms/hgvs/"},{"id":"variant-effect-prediction","kind":"term","name":"Variant effect prediction","route":"/terms/variant-effect-prediction/"},{"id":"vus","kind":"term","name":"Variant of uncertain significance (VUS)","route":"/terms/vus/"}],"bottleneck":[{"id":"b-hereditary-risk","kind":"bottleneck","name":"Inherited risk is mostly unidentified","route":"/bottlenecks/b-hereditary-risk/"}],"idea":[{"id":"idea-prev-vus-saturation-editing-consortium","kind":"idea","name":"Test every possible mutation in every cancer gene so no result is 'uncertain'","route":"/ideas/idea-prev-vus-saturation-editing-consortium/"}]}}