Version 2.78

Term Description

In the interpretation of sequence variants, standard terminology is used to describe the level of evidence that supports the association between a particular genetic variant and a particular disorder or disease state. Three example answer lists for levels of evidence are listed below but we recognize that a local terminology may also be used based on other factors such as population, type of data studied, etc. The example answer list associated with this term is that given by the American College of Medical Genetics, but depending on the use case, other lists may be just as appropriate.

American College of Medical Genetics [https://www.acmg.net/docs/standards_guidelines_for_the_interpretation_of_sequence_variants.pdf]
Very strong evidence pathogenic
Strong evidence pathogenic
Moderate evidence pathogenic
Supporting evidence pathogenic
Supporting evidence benign
Strong evidence benign
Stand-alone evidence pathogenic
Stand-alone evidence benign
Uncertain significance

PharmGKB CPIC Clinical Annotation Levels of Evidence [https://www.pharmgkb.org/page/clinAnnLevels]
Level 1A High
Level 1B High
Level 2a Moderate
Level 2b Moderate
Level 3 Low
Level 4 Preliminary

AMP guidelines to be used for Somatic Variant Interpretation/Reporting (list has meaning for Therapeutic, Diagnostic, and Prognostic uses as further described in the reference). [https://jmd.amjpathol.org/article/S1525-1578(16)30223-9/pdf]
Tier 1 Level A - (Strong Clinical Significance) FDA-approved therapy and/or included in professional guidelines.
Tier 1 Level B - (Strong Clinical Significance) Well-powered studies with consensus from experts in the field.
Tier 2 Level C - (Potential Clinical Significance) FDA-approved therapies for different tumor types or investigational therapies, multiple small published studies with some consensus.
Tier 2 Level D - (Potential Clinical Significance) Preclinical trials or a few case reports without consensus.
Tier 3 - (Unknown Clinical Significance) Not observed at a significant allele frequency in general or specific subpopulation databases or pan-cancer or tumor-specific variant databases, no convincing published evidence of cancer association.
Tier 4 - (Benign or Likely Benign) Observed at significant allele frequency in the general or specific subpopulation databases and no existing published evidence of cancer association.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Level of evidence
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Level of evidence
Display Name
Level of evidence Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Level of evidence, Blood or tissue specimen

Example Answer List: LL5356-2

Source: American College of Medical Genetics
Answer Code Score Answer ID
Very strong evidence pathogenic LA30200-2
Strong evidence pathogenic LA30201-0
Moderate evidence pathogenic LA30202-8
Supporting evidence pathogenic LA30203-6
Supporting evidence benign LA30204-4
Strong evidence benign LA30205-1
Stand-alone evidence pathogenic LA30206-9
Stand-alone evidence benign LA30207-7
Uncertain significance LA26333-7

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Nivel de evidencia:Hallazgo:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Nivel de evidencia:Hallazgo:Punto temporal:Sangre o tejido:Nominal:
fr-FR French (France) Niveau de preuve:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Livello di evidenza:Osservazione:Pt:Sangue/Tess:Nom:
Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 证据等级:发现:时间点:全血/组织:名义型:
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 程度 等级 级 级别 血;血液 证据级别;证据强度;证据水平

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93044-6