| Name | Steward Organization | Suggested Domain | Suggested Domain Description | Cde Group | Classification |
|---|---|---|---|---|---|
| Genetic test mutation clinical category | NINDS | Biomarkers, genetics, and genomics |
Biomarkers, genetics, and genomics relevant to AD/ADRD |
NIH CDEs |
|
| # | Datatype |
|---|---|
|
|
Value List |
| # | Permissible value | Value meaning name | Value meaning definition |
|---|---|---|---|
|
|
Benign | Benign | Benign |
|
|
Definitely pathogenic | Definitely pathogenic | Definitely pathogenic |
|
|
Likely benign | Likely benign | Likely benign |
|
|
Likely pathogenic | Likely pathogenic | Likely pathogenic |
|
|
Variant of uncertain significance | Variant of uncertain significance | Variant of uncertain significance |
| # | Definition |
|---|---|
|
|
The category for the type of mutation in clinical setting. |
| # | Designation |
|---|---|
|
|
Genetic test mutation clinical category |
| # | Identifier | Origin | Version |
|---|---|---|---|
|
|
C19602 | NINDS | 1 |
|
|
GentTestMutClinCat | BRICS Variable Name | N/A |
|
|
QklBME5jr0 | NLM CDEs | 12-02-2025-download |