450 BRCA1 missense variants with conflicting ClinVar interpretations as of 20 December 2022, drawn from 12,719 total BRCA1 ClinVar variants (654 conflicting).
These checks assess whether the evidence supports a reproducible investigation. A source-checked score alone does not meet these requirements.
Release 2026-10-06-fea06f63ac0e · Evidence verified: Not verified
Exact outcomes, predictions, identifiers and evaluator are connected.
Missing or unresolved evidence
Verified: Not verified
Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.
Missing or unresolved evidence
Verified: Not verified
A pinned recipe describes the inputs, environment and resource requirements.
Missing or unresolved evidence
Verified: Not verified
Separate data and exposure records support an independent test.
Missing or unresolved evidence
Verified: Not verified
Readiness describes the evidence in this release. Availability on your computer is checked separately when an investigation runs. Existing data exposure can prevent independent validation even when files are available.
No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.
1 evaluation · 2 results. Different protocols are not a single leaderboard.
Applied filters: All linked evaluations
| 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.
A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.
Source checking verifies the cited claim or transcription. It does not establish independent reproduction.
Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.
One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.
6 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.conflicting_variant_count 654 Context-only references | Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance Materials and Methods, Section 2.1, "ClinVar Data Extraction" Version: 2024 published article (Diagnostics (Basel)); CanVIG-UK gene-specific guidance v1.17 / consensus specification v2.17 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.missense_subset_count 450 Context-only references | Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance Materials and Methods, Section 2.1, "ClinVar Data Extraction" Version: 2024 published article (Diagnostics (Basel)); CanVIG-UK gene-specific guidance v1.17 / consensus specification v2.17 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.source_locator Materials and Methods, Section 2.1, "ClinVar Data Extraction" Context-only references | Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance Materials and Methods, Section 2.1, "ClinVar Data Extraction" Version: 2024 published article (Diagnostics (Basel)); CanVIG-UK gene-specific guidance v1.17 / consensus specification v2.17 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.total_clinvar_brca1_variant_count 12719 Context-only references | Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance Materials and Methods, Section 2.1, "ClinVar Data Extraction" Version: 2024 published article (Diagnostics (Basel)); CanVIG-UK gene-specific guidance v1.17 / consensus specification v2.17 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| description 450 BRCA1 missense variants with conflicting ClinVar interpretations as of 20 December 2022, drawn from 12,719 total BRCA1 ClinVar variants (654 conflicting). Context-only references | Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance Materials and Methods, Section 2.1, "ClinVar Data Extraction" Version: 2024 published article (Diagnostics (Basel)); CanVIG-UK gene-specific guidance v1.17 / consensus specification v2.17 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| name So 2024 BRCA1 conflicting-classification missense cohort Context-only references | Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance Materials and Methods, Section 2.1, "ClinVar Data Extraction" Version: 2024 published article (Diagnostics (Basel)); CanVIG-UK gene-specific guidance v1.17 / consensus specification v2.17 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
View linked audit checks and correction history
Release 2026-10-06-fea06f63ac0e · Record review: source checked
Stable ID: uc-clinical-20261005-so-2024-cohort