Genetic variation clinical significance [Imp]

Gene dis seq var interp-Imp

Definition

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 In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign.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.

Blood; Dis; Diseases; Dz; Gene dis seq var interp; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpret; Interpretation; Interpt; Intrp; Molecular genetics; MOLPATH.GENERAL; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue