Enum: ClinicalSignificanceEnum

The clinical significance of a variant for a condition (ACMG guidelines)

URI: dismech:enum/ClinicalSignificanceEnum

Permissible Values

Value	Meaning	Description
PATHOGENIC	GENO:0000840	Variant is pathogenic for the condition (ACMG class 5)
LIKELY_PATHOGENIC	GENO:0000841	Variant is likely pathogenic for the condition (ACMG class 4)
BENIGN	GENO:0000843	Variant is benign for the condition (ACMG class 1)
LIKELY_BENIGN	GENO:0000844	Variant is likely benign for the condition (ACMG class 2)
UNCERTAIN_SIGNIFICANCE	GENO:0000845	Clinical significance of the variant is uncertain (ACMG class 3)

Slots

Name	Description
clinical_significance

Identifier and Mapping Information

Schema Source

• from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: ClinicalSignificanceEnum
description: The clinical significance of a variant for a condition (ACMG guidelines)
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  PATHOGENIC:
    text: PATHOGENIC
    description: Variant is pathogenic for the condition (ACMG class 5)
    meaning: GENO:0000840
    title: Pathogenic
    aliases:
    - pathogenic_for_condition
  LIKELY_PATHOGENIC:
    text: LIKELY_PATHOGENIC
    description: Variant is likely pathogenic for the condition (ACMG class 4)
    meaning: GENO:0000841
    title: Likely pathogenic
    aliases:
    - likely_pathogenic_for_condition
  BENIGN:
    text: BENIGN
    description: Variant is benign for the condition (ACMG class 1)
    meaning: GENO:0000843
    title: Benign
    aliases:
    - benign_for_condition
  LIKELY_BENIGN:
    text: LIKELY_BENIGN
    description: Variant is likely benign for the condition (ACMG class 2)
    meaning: GENO:0000844
    title: Likely benign
    aliases:
    - likely_benign_for_condition
  UNCERTAIN_SIGNIFICANCE:
    text: UNCERTAIN_SIGNIFICANCE
    description: Clinical significance of the variant is uncertain (ACMG class 3)
    meaning: GENO:0000845
    title: Uncertain significance
    aliases:
    - has_uncertain_significance_for_condition