Annotation Detail

Information
Associated Genes
CALR
Associated Variants
CALR MUTATION
CALR MUTATION
Associated Disease
essential thrombocythemia
Source Database
CIViC Evidence
Description
Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6382
Gene URL
https://civic.genome.wustl.edu/links/genes/732
Variant URL
https://civic.genome.wustl.edu/links/variants/2388
Rating
5
Evidence Type
Diagnostic
Disease
Essential Thrombocythemia
Evidence Direction
Supports
Evidence Level
A
Clinical Significance
Positive
Pubmed
27069254
Drugs