So 2024 BRCA1 ClinVar conflicting-variant reinterpretation study
Published-study grouping of the catalogued evaluation protocol. This grouping does not claim an executable suite, full-paper extraction or independent clinical validation.
Overview
Published-study grouping of the catalogued evaluation protocol. This grouping does not claim an executable suite, full-paper extraction or independent clinical validation.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
1 recorded evaluation, 2 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
Results are available, but no reviewed comparison panel is linked in this release.
All evaluations
1 evaluation · 2 results. Different protocols are not a single leaderboard.
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| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: VarSome vs. CanVIG-UK three-category concordance comparison | Protocol: So 2024 VarSome-vs-CanVIG-UK agreement on conflicting BRCA1 missense variants Dataset: So 2024 BRCA1 conflicting-classification missense cohort | 58.9% concordance_rate percent · higher Uncertainty: type: confidence_interval; level: 95%; low: 52.0; high: 66.4; unit: percent Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceSo 2024 VarSome-vs-CanVIG-UK agreement evaluation Not reported Aggregation: Not reported Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance · Results, Section 3.3, "Comparison of Classification Results Between Varsome and CanVIG-UK": "The overall concordance rate was 58.9% (95% CI: 52.0-66.4%; 265/450) between VarSome and CanVIG-UK (Figure 2)." |
| Configuration: VarSome vs. CanVIG-UK three-category concordance comparison | Protocol: So 2024 VarSome-vs-CanVIG-UK agreement on conflicting BRCA1 missense variants Dataset: So 2024 BRCA1 conflicting-classification missense cohort | 265 concordant_classification_count count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceSo 2024 VarSome-vs-CanVIG-UK agreement evaluation Not reported Aggregation: Not reported Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance · Results, Section 3.3, "Comparison of Classification Results Between Varsome and CanVIG-UK": "The overall concordance rate was 58.9% (95% CI: 52.0-66.4%; 265/450) between VarSome and CanVIG-UK (Figure 2)." |
Source checking is not independent reproduction. Release 2026-10-06-fea06f63ac0e.
Methods and evaluation design
Procedure, tasks and evaluated configurations
Evaluation design
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Baseline coverage
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0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.
Baseline status by linked protocol
- So 2024 VarSome-vs-CanVIG-UK agreement on conflicting BRCA1 missense variants · 0/2 roles measured
Protocol coverage CSV · Model evaluation matrix · Source table · Release and checksums
Coverage is derived from release 2026-10-06-fea06f63ac0e. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.
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Strengths, limitations and unresolved questions
Evidence
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Evidence table
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Sources and history
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Release 2026-10-06-fea06f63ac0e · Record review: source checked
1 source records and release history
- Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance · Original source · 2024 published article (Diagnostics (Basel)); CanVIG-UK gene-specific guidance v1.17 / consensus specification v2.17 applied
Technical metadata and extraction receipts
Stable ID: uc-clinical-20261005-so-2024-benchmark
- areas
- dna-genomes
- contexts
- clinical_research
- entity level
- suite
- grouping type
- published_study_evaluations
- executable suite
- false
- source locator
- Results, Section 3.3, "Comparison of Classification Results Between Varsome and CanVIG-UK"
- review
- method: automated_source_review; reviewer: Claude Sonnet clinical coverage worker (research-evidence intake); date: 2026-10-05; note: Transcription from inspected primary source. No execution, independent replication or human scientific review.; source id: uc-clinical-20261005-source-so-2024