Statements (61)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic database
|
| gptkbp:acceptsSubmissions |
yes
|
| gptkbp:access |
open access
|
| gptkbp:citation |
Landrum MJ, et al. Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067.
|
| gptkbp:country |
gptkb:United_States
|
| gptkbp:focus |
human genetic variation
clinical significance genotype-phenotype relationships |
| gptkbp:format |
gptkb:JSON
XML VCF tab-delimited |
| gptkbp:hasClinicalSignificanceCategories |
other
benign pathogenic drug response likely benign likely pathogenic uncertain significance |
| gptkbp:hasGeneData |
yes
|
| gptkbp:hasPhenotypeData |
yes
|
| gptkbp:hasVariantData |
yes
|
| https://www.w3.org/2000/01/rdf-schema#label |
ClinVar
|
| gptkbp:language |
English
|
| gptkbp:launched |
2013
|
| gptkbp:license |
public domain
|
| gptkbp:maintainedBy |
gptkb:National_Center_for_Biotechnology_Information
|
| gptkbp:partOf |
gptkb:National_Institutes_of_Health
|
| gptkbp:recognizedBy |
gptkb:NCBI_database:_clinvar
|
| gptkbp:relatedTo |
gptkb:GeneReviews
gptkb:OMIM gptkb:dbSNP gptkb:dbVar |
| gptkbp:reviewedBy |
criteria provided, single submitter
no assertion criteria provided no assertion provided practice guideline reviewed by expert panel criteria provided, multiple submitters, no conflicts |
| gptkbp:scope |
insertions and deletions
single nucleotide variants structural variants copy number variations germline variants somatic variants |
| gptkbp:submissionReview |
curated
|
| gptkbp:supportedBy |
yes
|
| gptkbp:type |
phenotype associations
supporting evidence variant interpretations |
| gptkbp:updated |
regularly
|
| gptkbp:usedBy |
gptkb:researchers
clinicians genetic counselors |
| gptkbp:website |
https://www.ncbi.nlm.nih.gov/clinvar/
|
| gptkbp:YouTubeChannel |
clinical testing submissions
expert panel submissions literature only submissions public submissions |
| gptkbp:bfsParent |
gptkb:UCSC_Genome_Browser
|
| gptkbp:bfsLayer |
5
|