ClinVar database
E569124
The ClinVar database is a public archive that aggregates information about the clinical significance of genetic variants and their relationships to human health.
All labels observed (3)
| Label | Occurrences |
|---|---|
| ClinVar | 2 |
| ClinVar database canonical | 1 |
| NCBI ClinVar database | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T6098293 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: ClinVar database Context triple: [Entrez system, hasPart, ClinVar database]
-
A.
23andMe
23andMe is a personal genomics and biotechnology company best known for providing direct-to-consumer DNA testing and ancestry analysis services.
-
B.
Diagnostics and Genomics
Diagnostics and Genomics is a business segment focused on providing advanced tools and solutions for molecular diagnostics, genetic analysis, and related clinical and research applications.
-
C.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a U.S. government resource that provides reliable, up-to-date information and support to patients, families, and healthcare professionals about genetic and rare conditions.
-
D.
American College of Medical Genetics and Genomics
The American College of Medical Genetics and Genomics is a professional organization that advances the practice and standards of medical genetics and genomics through education, policy, and clinical guidelines for healthcare providers.
-
E.
Rare Diseases Registry Program
The Rare Diseases Registry Program is an initiative that helps develop and maintain patient registries to advance research, understanding, and treatment of rare diseases.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: ClinVar database Target entity description: The ClinVar database is a public archive that aggregates information about the clinical significance of genetic variants and their relationships to human health.
-
A.
23andMe
23andMe is a personal genomics and biotechnology company best known for providing direct-to-consumer DNA testing and ancestry analysis services.
-
B.
Diagnostics and Genomics
Diagnostics and Genomics is a business segment focused on providing advanced tools and solutions for molecular diagnostics, genetic analysis, and related clinical and research applications.
-
C.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a U.S. government resource that provides reliable, up-to-date information and support to patients, families, and healthcare professionals about genetic and rare conditions.
-
D.
American College of Medical Genetics and Genomics
The American College of Medical Genetics and Genomics is a professional organization that advances the practice and standards of medical genetics and genomics through education, policy, and clinical guidelines for healthcare providers.
-
E.
Rare Diseases Registry Program
The Rare Diseases Registry Program is an initiative that helps develop and maintain patient registries to advance research, understanding, and treatment of rare diseases.
- F. None of above. chosen
Statements (70)
| Predicate | Object |
|---|---|
| instanceOf |
bioinformatics resource
ⓘ
genetic variant database ⓘ public archive ⓘ |
| countryOfOperator |
United States
ⓘ
linked to:
United States of America
|
| dataSource |
clinical testing laboratories
ⓘ
expert panels ⓘ individual submitters ⓘ professional societies ⓘ research laboratories ⓘ |
| dataType |
copy number variants
ⓘ
germline variants ⓘ single nucleotide variants ⓘ small insertions and deletions ⓘ somatic variants ⓘ structural variants ⓘ |
| focusesOn |
clinical significance of genetic variants
ⓘ
genotype-phenotype relationships ⓘ human genetic variation ⓘ human health ⓘ |
| goal |
facilitate sharing of variant interpretations
ⓘ
improve understanding of the relationship between genetic variation and human health ⓘ support evidence-based clinical decision-making ⓘ |
| hasFeature |
conflict identification between submissions
ⓘ
downloadable data sets ⓘ programmatic access ⓘ review status categories ⓘ searchable web interface ⓘ submission tracking ⓘ versioned records ⓘ |
| hasKeyConcept |
clinical significance
ⓘ
disease association ⓘ evidence-based assertions ⓘ pathogenicity ⓘ phenotype annotation ⓘ variant interpretation ⓘ |
| hasPrimaryLanguage | English ⓘ |
| isAccessibleVia |
API
ⓘ
FTP ⓘ NCBI Entrez system ⓘ
linked to:
Entrez system
web interface ⓘ |
| isFree | true ⓘ |
| licenseType | open access ⓘ |
| linkedTo |
Gene database
ⓘ
OMIM ⓘ PubMed ⓘ dbSNP ⓘ dbVar ⓘ |
| maintainedBy |
NCBI
ⓘ
National Center for Biotechnology Information ⓘ |
| operatedBy |
NCBI Clinical Genetics and Genomics group
ⓘ
linked to:
Genetic Testing Registry
|
| partOf |
NIH
ⓘ
linked to:
National Institutes of Health
National Institutes of Health ⓘ |
| provides |
clinical assertions about variants
ⓘ
condition-level annotations ⓘ links to related resources ⓘ review status for submissions ⓘ supporting evidence for variant interpretations ⓘ variant-level annotations ⓘ |
| supportsTask |
clinical variant interpretation
ⓘ
curation of variant pathogenicity ⓘ diagnostic decision-making ⓘ research on genotype-phenotype correlations ⓘ |
| usedBy |
clinical genetic testing laboratories
ⓘ
clinicians ⓘ genetic counselors ⓘ researchers ⓘ |
| usesStandard |
ACMG-AMP variant interpretation guidelines
ⓘ
ClinGen guidelines ⓘ HGVS nomenclature ⓘ Human Genome Variation Society standards ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: ClinVar database Description of subject: The ClinVar database is a public archive that aggregates information about the clinical significance of genetic variants and their relationships to human health.
Referenced by (4)
Full triples — surface form annotated when it differs from this entity's canonical label.
linked to: ClinVar database
linked to: ClinVar database
linked to: ClinVar database