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ClinGen ENIGMA v1.0 manual criteria-based curation

Two-phase expert biocuration of selected pilot variants with revised specifications and shared evidence.

Overview

Two-phase expert biocuration of selected pilot variants with revised specifications and shared evidence.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

Evaluations and results

1 evaluation · 5 results. Different protocols are not a single leaderboard.

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curation	Protocol: ENIGMA specification pilot resolution Dataset: ENIGMA 40-variant pilot	32 first_phase_confidence_band count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ENIGMA manual specification pilot Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Results, Pilot curation, first-phase-confidence-band
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curation	Protocol: ENIGMA specification pilot resolution Dataset: ENIGMA 40-variant pilot	3 lb_b_resolved_to_b count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ENIGMA manual specification pilot Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Results, Pilot curation, lb-b-resolved-to-b
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curation	Protocol: ENIGMA specification pilot resolution Dataset: ENIGMA 40-variant pilot	5 lp_p_resolved_to_p count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ENIGMA manual specification pilot Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Results, Pilot curation, lp-p-resolved-to-p
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curation	Protocol: ENIGMA specification pilot resolution Dataset: ENIGMA 40-variant pilot	11 resolved_initial_vus_conflict count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ENIGMA manual specification pilot Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Results, Pilot curation, resolved-initial-vus-conflict
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curation	Protocol: ENIGMA specification pilot resolution Dataset: ENIGMA 40-variant pilot	6 second_phase_vus_other_resolved count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ENIGMA manual specification pilot Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Results, Pilot curation, second-phase-vus-other-resolved

Source checking is not independent reproduction. Release 2026-09-30-e37e3ab1284d.

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Evidence

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Evidence table

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Claims, original sources and review scope · Release 2026-09-30-e37e3ab1284d
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Sources and history

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Release 2026-09-30-e37e3ab1284d · Record review: source checked

1 source records and release history

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Original source · 2024 final article; reported VCEP specifications v1.0

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Technical metadata and extraction receipts

Stable ID: uc-clinical-20260930-enigma-v10-manual

areas: dna-genomes
contexts: clinical_research
review: method: automated_source_review; reviewer: Codex clinical coverage worker; date: 2026-09-30; note: Transcription from inspected primary source. No execution, independent replication or human scientific review.; source id: uc-clinical-20260930-source-enigma
specification version: 1.0 (study version, not asserted current)

Related records

configuration: Gene-specific manual BRCA review baseline
configuration: ENIGMA manual specification pilot

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