NHS North West Genomics
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Example Observation: Genomic Report BRCA1 Variant Example

identifier: Uniform Resource Identifier (URI)/urn:uuid:dfa620b9-0b78-4c57-8f20-7772131b917d

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Octavia CHISLETT

value: Present

method: Sequencing

component

code: Variant category

value: Sequence Variant

component

code: Allelic state

value: Heterozygous

component

code: DNA change

value: BRCA1:c.3143delG p.(Gly1048ValfsTer14)