VarSome vs. CanVIG-UK three-category concordance comparison
Three-category classification (PV/LPV, VUS, BV/LBV) compared between VarSome and the BRCA1/BRCA2 CanVIG-UK gene-specific guidance on the same conflicting-variant cohort.
Overview
Three-category classification (PV/LPV, VUS, BV/LBV) compared between VarSome and the BRCA1/BRCA2 CanVIG-UK gene-specific guidance on the same conflicting-variant cohort.
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Evaluations and results
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)." |
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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
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Stable ID: uc-clinical-20261005-so-2024-varsome-canvig-config
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- 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
Related records
- configuration: So 2024 VarSome-vs-CanVIG-UK agreement evaluation