MonitoringValidation and translation · Medical genetics

ClinGen high-confidence gene–disease validity

First expert-panel Strong or Definitive classification for each gene–disease–inheritance relationship.

2,624 first high-confidence validations

Relationships
4,061
Currently high confidence
2,358
Later exits
20
Latest quarterly rate
1.86

Quarterly high-confidence validation rate

Quarterly ClinGen first high-confidence validation rate First Strong or Definitive validations per 100 relationships at risk in each quarter. 0 25 50 75 100 2016-Q4: 1 first high-confidence validations; 33.33 per 100 at risk 2017-Q1: 1 first high-confidence validations; 18.18 per 100 at risk 2017-Q2: 11 first high-confidence validations; 81.48 per 100 at risk 2017-Q3: 6 first high-confidence validations; 35.29 per 100 at risk 2017-Q4: 33 first high-confidence validations; 76.74 per 100 at risk 2018-Q1: 34 first high-confidence validations; 53.54 per 100 at risk 2018-Q2: 56 first high-confidence validations; 41.03 per 100 at risk 2018-Q3: 47 first high-confidence validations; 24.16 per 100 at risk 2018-Q4: 39 first high-confidence validations; 18.71 per 100 at risk 2019-Q1: 40 first high-confidence validations; 17.90 per 100 at risk 2019-Q2: 58 first high-confidence validations; 23.02 per 100 at risk 2019-Q3: 43 first high-confidence validations; 16.10 per 100 at risk 2019-Q4: 45 first high-confidence validations; 15.54 per 100 at risk 2020-Q1: 58 first high-confidence validations; 18.01 per 100 at risk 2020-Q2: 73 first high-confidence validations; 20.42 per 100 at risk 2020-Q3: 79 first high-confidence validations; 19.36 per 100 at risk 2020-Q4: 70 first high-confidence validations; 15.20 per 100 at risk 2021-Q1: 73 first high-confidence validations; 14.33 per 100 at risk 2021-Q2: 83 first high-confidence validations; 14.66 per 100 at risk 2021-Q3: 80 first high-confidence validations; 13.21 per 100 at risk 2021-Q4: 80 first high-confidence validations; 12.70 per 100 at risk 2022-Q1: 88 first high-confidence validations; 13.30 per 100 at risk 2022-Q2: 116 first high-confidence validations; 16.32 per 100 at risk 2022-Q3: 100 first high-confidence validations; 13.61 per 100 at risk 2022-Q4: 93 first high-confidence validations; 12.11 per 100 at risk 2023-Q1: 86 first high-confidence validations; 10.56 per 100 at risk 2023-Q2: 113 first high-confidence validations; 12.92 per 100 at risk 2023-Q3: 121 first high-confidence validations; 13.13 per 100 at risk 2023-Q4: 96 first high-confidence validations; 9.94 per 100 at risk 2024-Q1: 94 first high-confidence validations; 9.15 per 100 at risk 2024-Q2: 101 first high-confidence validations; 9.25 per 100 at risk 2024-Q3: 98 first high-confidence validations; 8.48 per 100 at risk 2024-Q4: 95 first high-confidence validations; 7.85 per 100 at risk 2025-Q1: 73 first high-confidence validations; 5.84 per 100 at risk 2025-Q2: 89 first high-confidence validations; 6.85 per 100 at risk 2025-Q3: 68 first high-confidence validations; 5.15 per 100 at risk 2025-Q4: 47 first high-confidence validations; 3.48 per 100 at risk 2026-Q1: 76 first high-confidence validations; 5.38 per 100 at risk 2026-Q2: 33 first high-confidence validations; 2.30 per 100 at risk 2026-Q3: 27 first high-confidence validations; 1.86 per 100 at risk 2016 2018 2020 2022 2024 2026
First Approved Strong or Definitive classifications per 100 gene–disease–inheritance relationships at risk.
Definition+
Event
First Approved Strong or Definitive classification for a unique gene–disease–mode-of-inheritance relationship.
Date
Approved contribution date in the GeneGraph version record.
Denominator
Start-of-quarter relationships previously classified below high confidence plus half of new relationship entries during the quarter.
Identity
Gene, disease, and mode of inheritance
Classifications and revisions+
Definitive
2,279
Strong
79
Moderate
452
Limited
533

20 version transitions leave the high-confidence set after a prior Strong or Definitive classification.

Annual data+
YearFirst validationsRisk exposureRate / 100
2026 partial 136 4,295 3.17
2025 277 5,220 5.31
2024 388 4,484 8.65
2023 416 3,577 11.63
2022 397 2,875 13.81
2021 316 2,311 13.67
2020 280 1,548 18.09
2019 186 1,032 18.02
2018 176 603 29.19
2017 51 79 64.56
2016 1 3 33.33
Analysis and limits+

Analysis

A discrete-time event-rate model or Poisson count model with log risk-set exposure, calendar time, and quarter effects; Strong and Definitive outcomes are also reported separately.

  • Use annual rather than quarterly periods
  • Separate initial high-confidence curations from later upgrades
  • Exclude relationships with multiple simultaneous current base assertions
  • Report later high-confidence exits and net stock change
  • Stratify by expert panel, SOP, inheritance mode, and Strong versus Definitive
  • Vary the recent-period boundary without calling it an intervention

Limits

  • ClinGen validates gene–disease relationships; it does not date the original biological discovery.
  • The programme's expert-panel capacity, curation priorities, SOP revisions, and disease scope affect the observed validation rate.
  • Current human-readable labels are joined from the real-time CSV and are missing for some historical or retired versions.
  • Several base assertions can refer to the same gene–disease–inheritance relationship; the series deduplicates at the relationship level.
  • A Strong or Definitive classification can later be revised, disputed, downgraded, or retired; exits remain a separate quality dimension.
Data and sources+
Relationship tableVersion historySummarySource manifestDocumentation

Data through 17 Sept 2026. Retrieved 2026-09-22.