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.
Observed surface forms (1)
| Surface form | Occurrences |
|---|---|
| ClinVar | 0 |
Statements (70)
| Predicate | Object |
|---|---|
| instanceOf |
bioinformatics resource
ⓘ
genetic variant database ⓘ public archive ⓘ |
| countryOfOperator |
United States of America
ⓘ
surface form:
United States
|
| 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
NERFINISHED
ⓘ
FTP ⓘ NCBI Entrez system NERFINISHED ⓘ web interface ⓘ |
| isFree | true ⓘ |
| licenseType | open access ⓘ |
| linkedTo |
Gene database
ⓘ
OMIM NERFINISHED ⓘ PubMed NERFINISHED ⓘ dbSNP NERFINISHED ⓘ dbVar NERFINISHED ⓘ |
| maintainedBy |
NCBI
NERFINISHED
ⓘ
National Center for Biotechnology Information NERFINISHED ⓘ |
| operatedBy | NCBI Clinical Genetics and Genomics group NERFINISHED ⓘ |
| partOf |
NIH
NERFINISHED
ⓘ
National Institutes of Health NERFINISHED ⓘ |
| 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 NERFINISHED ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.