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Type:
Change Request
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Resolution: Retracted
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Priority:
Medium
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Genomics Reporting (FHIR)
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STU3
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Clinical Genomics
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(profiles) [deprecated]
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Enhancement
Current LOINC code on the 'Simple var ID' component seems to be for 'Discrete' variant:
https://r.details.loinc.org/LOINC/81252-9.html?sections=Comprehensive
Definition:
TERM DEFINITION/DESCRIPTION(S)
This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
- is voted on by
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BALLOT-5413 Affirmative - Kevin Power : 2018-May-FHIR IG CG R1
- Retracted