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Dataset

Benet-Pages 2025 BRCA1/BRCA2 VUS reclassification cohort

121 BRCA1/BRCA2 variants of uncertain significance from 120 patients, tracked through successive reclassification steps. Aggregate counts only; the source's single gene-split reclassification-rate sentence cannot be reconciled against its own Methods denominators and is not used in this intake (see research notes).

Research readiness

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

Evidence incomplete

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  • metric replay: verification is missing

Verified: Not verified

Evidence incomplete

Investigate discrepancies

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  • artifact hashes: verification is missing
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  • score semantics: verification is missing
  • metric replay: verification is missing
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  • dependence: verification is missing

Verified: Not verified

Evidence incomplete

Run locally

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  • artifact hashes: verification is missing
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Verified: Not verified

Evidence incomplete

Validate independently

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Missing or unresolved evidence

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  • independent validation: verification is missing
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Verified: Not verified

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Read reviewed discrepancy investigations

Evaluation results

2 evaluations · 4 results. Different protocols are not a single leaderboard.

Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: ACMG/AMP classification system with SVI recommendations (t2)Protocol: Benet-Pages BRCA1/BRCA2 VUS reclassification: ACMG/AMP + SVI step (t2)
Dataset: Benet-Pages 2025 BRCA1/BRCA2 VUS reclassification cohort
24 reclassified_to_lb_count
count · unknown

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Benet-Pages t2 (ACMG/AMP + SVI) reclassification of the 121-variant VUS cohort

Not reported

Aggregation: Not reported

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system · Results, "Reclassification of variants using the ACMG/AMP classification system with SVI recommendations and new data (ACMG/AMP + SVI)": "Of 121 VUS, 20% (n = 24) were reclassified as LB..."
Configuration: ACMG/AMP classification system with SVI recommendations (t2)Protocol: Benet-Pages BRCA1/BRCA2 VUS reclassification: ACMG/AMP + SVI step (t2)
Dataset: Benet-Pages 2025 BRCA1/BRCA2 VUS reclassification cohort
20% reclassified_to_lb_fraction
percent · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Benet-Pages t2 (ACMG/AMP + SVI) reclassification of the 121-variant VUS cohort

Not reported

Aggregation: Not reported

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system · Results, "Reclassification of variants using the ACMG/AMP classification system with SVI recommendations and new data (ACMG/AMP + SVI)": "Of 121 VUS, 20% (n = 24) were reclassified as LB..."
Configuration: ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 (t3)Protocol: Benet-Pages BRCA1/BRCA2 VUS reclassification: ENIGMA VCEP step (t3)
Dataset: Benet-Pages 2025 BRCA1/BRCA2 VUS reclassification cohort
101 reclassified_to_b_or_lb_count
count · unknown

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Benet-Pages t3 (ENIGMA VCEP) reclassification of the 121-variant VUS cohort

Not reported

Aggregation: Not reported

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system · Results, "Reclassification of variants using the ENIGMA specifications (ENIGMA VCEP)": "...83.5% (n = 101) of VUS were reclassified as B (n = 9) or LB (n = 92) (Figure 2A; t3)."
Configuration: ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 (t3)Protocol: Benet-Pages BRCA1/BRCA2 VUS reclassification: ENIGMA VCEP step (t3)
Dataset: Benet-Pages 2025 BRCA1/BRCA2 VUS reclassification cohort
83.5% reclassified_to_b_or_lb_fraction
percent · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Benet-Pages t3 (ENIGMA VCEP) reclassification of the 121-variant VUS cohort

Not reported

Aggregation: Not reported

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system · Results, "Reclassification of variants using the ENIGMA specifications (ENIGMA VCEP)": "...83.5% (n = 101) of VUS were reclassified as B (n = 9) or LB (n = 92) (Figure 2A; t3)."

Source checking is not independent reproduction. Release 2026-10-06-fea06f63ac0e.

Dataset and evaluation context

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Evidence

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Evidence table

Inspect claims, sources and review details

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.

5 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-06-fea06f63ac0e
Property and statementOriginal source and locationReview and provenance
attributes.patient_count
120
Context-only references
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Original source ↗

Materials and Methods, "Patients and variant data"

Version: 2025 published article (Genetics in Medicine Open); ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 applied
Retrieved: 2026-10-05T14:02:27Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.patient_count

Source artifact SHA-256: 2e458cacad35cca0507753c43c5104b75217593a0c2fdbd16143f0391fba33eb

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.source_locator
Materials and Methods, "Patients and variant data"
Context-only references
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Original source ↗

Materials and Methods, "Patients and variant data"

Version: 2025 published article (Genetics in Medicine Open); ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 applied
Retrieved: 2026-10-05T14:02:27Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: 2e458cacad35cca0507753c43c5104b75217593a0c2fdbd16143f0391fba33eb

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.total_vus_count
121
Context-only references
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Original source ↗

Materials and Methods, "Patients and variant data"

Version: 2025 published article (Genetics in Medicine Open); ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 applied
Retrieved: 2026-10-05T14:02:27Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.total_vus_count

Source artifact SHA-256: 2e458cacad35cca0507753c43c5104b75217593a0c2fdbd16143f0391fba33eb

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

description
121 BRCA1/BRCA2 variants of uncertain significance from 120 patients, tracked through successive reclassification steps. Aggregate counts only; the source's single gene-split reclassification-rate sentence cannot be reconciled against its own Methods denominators and is not used in this intake (see research notes).
Context-only references
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Original source ↗

Materials and Methods, "Patients and variant data"

Version: 2025 published article (Genetics in Medicine Open); ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 applied
Retrieved: 2026-10-05T14:02:27Z

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: 2e458cacad35cca0507753c43c5104b75217593a0c2fdbd16143f0391fba33eb

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

name
Benet-Pages 2025 BRCA1/BRCA2 VUS reclassification cohort
Context-only references
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Original source ↗

Materials and Methods, "Patients and variant data"

Version: 2025 published article (Genetics in Medicine Open); ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 applied
Retrieved: 2026-10-05T14:02:27Z

not individually reviewed

No individual claim review recorded

Audit details

Field: name

Source artifact SHA-256: 2e458cacad35cca0507753c43c5104b75217593a0c2fdbd16143f0391fba33eb

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Sources and history

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Release 2026-10-06-fea06f63ac0e · Record review: source checked

1 source records and release historyDownload this release
Technical metadata and extraction receipts

Stable ID: uc-clinical-20261005-benet-pages-cohort

areas
dna-genomes
contexts
clinical_research
total vus count
121
patient count
120
source locator
Materials and Methods, "Patients and variant data"
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-benet-pages
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