Rekord LOINC: 93044-6

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.

Blood; Finding; Findings; Levels; Levl; LV; LVL; Molecular pathology; MOLPATH; Nominal; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue