Type

The Evidence Type refers to the type of clinical (or biological) association described by the Evidence Item’s clinical summary.

Understanding Evidence Types

Six Evidence Types are currently supported: Predictive (i.e. Therapeutic), Diagnostic, Prognostic, Predisposing, Oncogenic, and Functional. Each Evidence Type describes the clinical or biological effect a variant has on the following: therapeutic response (Predictive), determining a patient’s diagnosis or disease subtype (Diagnostic), predicting disease progression or patient survival (Prognostic), disease susceptibility (Predisposing), or biological alterations relevant to a cancer phenotype (Oncogenic) or protein function (Functional). Selecting an Evidence Type has implications on available selections for Clinical Significance.

Curating Evidence Types

Six Evidence Types are currently supported: Predictive (i.e. Therapeutic), Diagnostic, Prognostic, Predisposing, Oncogenic, and Functional. Each Evidence Type describes the clinical or biological effect a variant has on the following: therapeutic response (Predictive), determining a patient’s diagnosis or disease subtype (Diagnostic), predicting disease progression or patient survival (Prognostic), disease susceptibility (Predisposing), or biological alterations relevant to a cancer phenotype (Oncogenic) or protein function (Functional). Selecting an Evidence Type has implications on available selections for Clinical Significance, which are detailed on the Evidence clinical significance page.

Type

Symbol

Definition

Predictive

Evidence pertaining to a variant’s effect on therapeutic response

Diagnostic

Evidence pertaining to a variant’s impact on patient diagnosis

Prognostic

Evidence pertaining to a variant’s impact on disease progression, severity, or patient survival

Predisposing

Evidence pertains to a germline variant’s role in conferring susceptibility to disease (including pathogenicity evaluations)

Oncogenic

Evidence pertains to a somatic variant’s involvement in tumor pathogenesis as described by the Hallmarks of Cancer

Functional

Evidence pertains to a variant’s causing alteration or non-alteration of the gene product function

Extensive documentation for curating Evidence types is provided on the Curating Evidence page. Be sure to closly study the examples for each type.