Enum: ClinicalSignificanceEnum

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

Permissible Values

Value	Meaning	Description
PATHOGENIC	GENO:0000840	pathogenic_for_condition
LIKELY_PATHOGENIC	GENO:0000841	likely_pathogenic_for_condition
BENIGN	GENO:0000843	benign_for_condition
LIKELY_BENIGN	GENO:0000844	likely_benign_for_condition
UNCERTAIN_SIGNIFICANCE	GENO:0000845	has_uncertain_significance_for_condition

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: pathogenic_for_condition
    meaning: GENO:0000840
  LIKELY_PATHOGENIC:
    text: LIKELY_PATHOGENIC
    description: likely_pathogenic_for_condition
    meaning: GENO:0000841
  BENIGN:
    text: BENIGN
    description: benign_for_condition
    meaning: GENO:0000843
  LIKELY_BENIGN:
    text: LIKELY_BENIGN
    description: likely_benign_for_condition
    meaning: GENO:0000844
  UNCERTAIN_SIGNIFICANCE:
    text: UNCERTAIN_SIGNIFICANCE
    description: has_uncertain_significance_for_condition
    meaning: GENO:0000845