NHS North West Genomics
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Example Observation: DiagnosticImplication - Lynch Syndrome

identifier: 6beb613f-d303-42af-b025-86e8e0872061

status: Final

category: Genetics, Laboratory

code: Diagnostic Implication

subject: Paul LIVERPOOL

effective: 2025-10-23 10:37:26+0000

performer: PractitionerRole

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Inherited MMR deficiency (Lynch syndrome)