LOINC
Version 2.69

53037-8Genetic variation clinical significance [Imp]Active

Term Description

Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Genetic disease sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis seq var interp-Imp
Display Name
Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha
Genetic disease Sequence Variation Interpretation, Blood or Tissue Specimen

Preferred Answer List LL4034-6

Source: American College of Medical Genetics

Answer Code Score Answer ID
Pathogenic LA6668-3
Likely pathogenic LA26332-9
Uncertain significance LA26333-7
Likely benign LA26334-5
Benign LA6675-8

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

zh-CNChinese (China)
遗传性疾病序列变异解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
genetische ziekte sequentievariatie interpretatie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
fr-FRFrench (France)
Maladie génétique interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)
Malattia genetica, interpretazione variazione di sequenza:Imp:Pt:Sangue/Tess:Nom:Molgen
pt-BRPortuguese (Brazil)
Doença genética interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
ru-RURussian (Russian Federation)
Генетическое заболевание последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
es-ESSpanish (Spain)
Interpretación de la variante de secuencia de la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
tr-TRTurkish (Turkey)
Genetik hastalık sekans varyasyon yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53037-8