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 is a dataset published in Genetics in Medicine Open (2025). On theSindex it has a DataRank of 0.352, placing it in the top 50.1% of the data-sharing corpus. It has been cited 9 times, with 8 citing works in its 1-hop citation network. Its calibrated FAIR score is 44/100.
Ranks in the top 50% for downstream scientific impact
Linked data & code
DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
Full FAIR picture · advisory
The headline score is computed from the scored criteria — the fact-shaped checks (a repository, an accession, a licence) that two independent models agree on. The advisory criteria below are real FAIR guidance but rest on judgment calls that models read differently, so they inform without moving the number.
No persistent identifier (DOI, Handle, ARK, URN, or repository accession) is provided for the dataset; the only identifier is the article DOI, which is not the data's. [majority verdict 'no' (4/5 passes agreed)]
RDA-F1-01D — FAIR Data Maturity Model: 'Data is identified by a persistent identifier' (priorit · RDA-F1-02D — FAIR Data Maturity Model: 'Data is identified by a globally unique identifier' · FsF-F1-02D — F-UJI/FAIRsFAIR: 'Data is assigned a persistent identifier'
“All variants were submitted to ClinVar.”
ClinVar is named as the repository holding the data. [majority verdict 'yes' (4/5 passes agreed)]
RDA-F4-01M — FAIR Data Maturity Model: metadata is offered so it can be harvested and indexed ( · NIH DMS Policy Element 4 (NOT-OD-21-014) — name the repository where data will be archived · NSTC Desirable Characteristics of Data Repositories (2022) — 'Long-Term Sustainability', 'Reten
No identifier for the dataset appears in the reference list or body text; the dataset is not cited. [majority verdict 'no' (3/5 passes agreed)]
FORCE11 Joint Declaration of Data Citation Principles (2014) — data should be cited as a first- · RDA-F3-01M — metadata clearly and explicitly includes the identifier of the data it describes · FsF-F3-01M — F-UJI: 'Metadata includes the identifier of the data it describes'
Advisory · not in the published score
“All variants were submitted to ClinVar. Full patient data are not available publicly to respect participant privacy and consent. Anonymized data not published within this article will be made available by request from any qualified investigator.”— not found in the paper; verdict downgraded
The statement points to a repository (ClinVar) but without a specific accession or link, and also includes a request option, categorizing it as partial. [downgraded to 'no' — no verifiable quote from the paper] [majority verdict 'no' (3/5 passes agreed)]
Colavizza, Hrynaszkiewicz, Staden, Whitaker & McGillivray (2020), 'The citation advantage of li · Springer Nature research data policy — Data Availability Statements: standard statement templat · RDA-F3-01M — metadata clearly and explicitly includes the identifier of the data it describes
“121 VUS in the genes BRCA1 (40 VUS, NM_007294.4, OMIM 113705, HGNC:1100) and BRCA2 (81 VUS, NM_000059.4, OMIM 600185, HGNC:1101) from 120 patients, mainly from the South German region, who underwent diagnostic next-generation-sequencing-based exome sequencing, were extracted from our internal variant database.”
The dataset content is described in running prose (number of variants, genes, patient count) but not in an itemised inventory (section, table, or list), so it is partial. [majority verdict 'partial' (3/5 passes agreed)]
RDA-F2-01M — 'Rich metadata is provided to allow discovery' (priority Essential) · FsF-F2-01M — F-UJI: 'Metadata includes descriptive core elements to support data findability' · FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data'
“All variants were submitted to ClinVar.”
The paper states that variants are submitted to a public repository (ClinVar) without any precondition, making them openly accessible. [majority verdict 'yes' (4/5 passes agreed)]
RDA-A1.1-01D — 'Data is accessible through a free access protocol' · FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data' · NSTC Desirable Characteristics of Data Repositories (2022) — 'Free and Easy Access'
Advisory · not in the published score
“All variants were submitted to ClinVar.”
The paper states the data are submitted to ClinVar but does not label the access level with a standard term like 'open access'; the action is described. [majority verdict 'partial' (4/5 passes agreed)]
FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data' · RDA-A1-01M — metadata contains information to enable the user to get access to the data · COAR Controlled Vocabularies — Access Rights v1.0 (open / embargoed / restricted / metadata-onl
“Anonymized data not published within this article will be made available by request from any qualified investigator.”— not found in the paper; verdict downgraded
The paper names a personal gatekeeper (the authors) for access to anonymized data, with no institutional gatekeeper. [downgraded to 'no' — no verifiable quote from the paper]
NIH Genomic Data Sharing Policy (NOT-OD-14-124) — controlled-access via a Data Access Committee · RDA-A1.2-01D — 'Data is accessible through an access protocol that supports authentication and · NIH DMS Policy Element 5 (NOT-OD-21-014) — Access, Distribution, or Reuse Considerations (conse
The paper does not mention any retention period or permanent archival claim for the data. [majority verdict 'no' (4/5 passes agreed)]
NIH DMS Plan Element 4 (NOT-OD-21-014) — Data Preservation, Access, and Associated Timelines · NSTC Desirable Characteristics (2022), Organizational Infrastructure: 'Retention Policy' · RDA-A2-01M — 'Metadata is guaranteed to remain available after data is no longer available'
No file format is named for the released data.
FsF-R1.3-02D — F-UJI: 'Data is available in a file format recommended by the target research co · RDA-R1.3-02D — data is expressed in a machine-understandable community standard · RDA-I1-01D — data uses a knowledge representation expressed in a standardised format
Advisory · not in the published score
“the 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) classification guidelines”
The paper names a community standard (ACMG/AMP guidelines) applied to the data. [majority verdict 'yes' (4/5 passes agreed)]
RDA-R1.3-01M — 'Metadata complies with a community standard' (priority Essential) · RDA-R1.3-01D — 'Data complies with a community standard' · RDA-I2-01M — '(Meta)data use vocabularies that follow FAIR principles'
“https://cspec.genome.network/cspec/ui/svi/doc/GN092”
The paper provides a URL for the ClinGen criteria registry, which is an identifier for an external resource. [majority verdict 'yes' (3/5 passes agreed)]
RDA-I3-01M — '(meta)data include references to other (meta)data' · RDA-I3-03M — 'metadata includes qualified references to other metadata' · FsF-I3-01M — F-UJI: 'Metadata includes links between the data and its related entities'
No license is attached to the data; the CC BY license applies only to the article.
RDA-R1.1-01M — 'Metadata includes information about the licence under which the data can be reu · RDA-R1.1-02M — 'Metadata refers to a standard reuse licence' · RDA-R1.1-03M — 'Metadata refers to a machine-understandable reuse licence'
“This data set included variants classified as VUS from January 2018 to November 2023.”
The data snapshot is pinned by a date range (November 2023), but no version token is given. [majority verdict 'partial' (4/5 passes agreed)]
DataCite Metadata Schema 4.6 — the 'Version' property · RDA-R1.2-01M — provenance information (which version was used is provenance) · NSTC Desirable Characteristics of Data Repositories (2022) — 'Provenance', 'Retention Policy'
“https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/makeDb/doc/enigma.txt”— not found in the paper; verdict downgraded
A machine-resolvable URL to a GitHub repository is provided for the code. [downgraded to 'partial' — no verifiable quote from the paper] [majority verdict 'partial' (4/5 passes agreed)]
NIH DMS Policy Element 2 (NOT-OD-21-014) — 'Related Tools, Software and/or Code' · FAIR4RS Principles v1.0 (Chue Hong et al., 2022; RDA/FORCE11/ReSA) — FAIR Principles for Resear · FORCE11 Software Citation Principles (Smith, Katz & Niemeyer, 2016, PeerJ CS 2:e86)
“U41HG002371”
An award number (U41HG002371) is given for the funding.
DataCite Metadata Schema 4.6 — 'FundingReference' property (funderName, funderIdentifier, award · Crossref Funder Registry — canonical funder identifiers for funding metadata · RDA-F2-01M — rich metadata provided to allow discovery (funding is part of the descriptive reco
Advisory · not in the published score
“We used REVEL 30 scores for the prediction of pathogenicity PP3 and BP4”
The paper names specific software tools (REVEL, SpliceAI, BayesDel, COOL, hgvsToVcf) used to produce the data. [majority verdict 'yes' (3/5 passes agreed)]
RDA-R1.2-01M — 'Metadata includes provenance information according to community- specific standa · FsF-R1.2-01M — F-UJI: 'Metadata includes provenance information about data creation or generati · W3C PROV-O (W3C Recommendation, 2013) — the entity/activity/agent model of provenance
“Supplemental Table 2”
The variable definitions (variant list) live inside the article as a supplementary table, not as a separate documentation object shipped with the data. [majority verdict 'partial' (4/5 passes agreed)]
RDA-R1-01M — '(Meta)data are richly described with a plurality of accurate and relevant attribu · FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data' · NIH DMS Policy Element 3 (NOT-OD-21-014) — Standards (documentation and metadata to accompany t
Calibrated FAIR score — a parallel quality metric, independent of the DataRank citation score. See the full evaluation →
Base Score Contribution
0.345
From this paper's citation signal
Citation Network Contribution
6.47 × 10⁻³
From 1 citing papers with measurable signal
Ranked by each citer's contribution to N(p) — log1p(Cq) divided by its reference count — out of 8 citers.
National Human Genome Research Institute
Grant: U41HG002371
National Human Genome Research Institute
Grant: 2019-210
National Institutes of Health
Grant: 5U41HG002371-21
The UCSC Genome Browser
National Institutes of Health
FWCI
7.87
Citation Percentile
1.0%
Citation Trend
Fields of Study
Keywords