Summary
- IRI
- SEPIO:0000371
- Name
- Clinical Significance Value Set
- Description
- The role that a variant plays in the causing a genetic condition (see LOINC answer list https://r.details.loinc.org/AnswerList/LL4034-6.html)
Included Codes
This value set includes codes from the following identifier systems:
- Include any concept from
http://loinc.org/( LOINC )
Expansion
This value set is fixed and therefore cannot be extended to include concepts not explicitly listed.
This value set contains 5 concepts.
| IRI | Label | Description |
|---|---|---|
| LOINC:LA26332-9 | Likely Pathogenic | |
| LOINC:LA26333-7 | Uncertain Significance | |
| LOINC:LA26334-5 | Likely Benign | |
| LOINC:LA6668-3 | Pathogenic | |
| LOINC:LA6675-8 | Benign |