Statements (26)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:database
|
gptkbp:access |
open access
|
gptkbp:citation |
Landrum MJ, et al. Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067.
|
gptkbp:contains |
supporting evidence
variant interpretations |
gptkbp:focusesOn |
human genetic variation
clinical significance |
https://www.w3.org/2000/01/rdf-schema#label |
NCBI database: clinvar
|
gptkbp:launched |
2013
|
gptkbp:maintainedBy |
gptkb:National_Center_for_Biotechnology_Information
|
gptkbp:relatedTo |
gptkb:GeneReviews
gptkb:OMIM gptkb:dbSNP gptkb:dbVar |
gptkbp:type |
phenotypes
disease associations genomic variants |
gptkbp:updated |
regularly
|
gptkbp:usedFor |
research
clinical decision support |
gptkbp:website |
https://www.ncbi.nlm.nih.gov/clinvar/
|
gptkbp:YouTubeChannel |
expert panel submissions
public submissions clinical testing laboratories |
gptkbp:bfsParent |
gptkb:ClinVar
|
gptkbp:bfsLayer |
6
|