Training activity information
Details
Perform interpretation of sequence variants for patients referred for investigation of rare disease and make recommendations for further testing required to reclassify variants, to include:
- missense,
- nonsense,
- splice site,
- indels
- frameshifts.
Type
Entrustable training activity (ETA)
Evidence requirements
Evidence the activity has been undertaken by the trainee repeatedly, consistently, and effectively over time, in a range of situations. This may include occasions where the trainee has not successfully achieved the outcome of the activity themselves. For example, because it was not appropriate to undertake the task in the circumstances or the trainees recognised their own limitations and sought help or advice to ensure the activity reached an appropriate conclusion.
Reflection at multiple timepoints on the trainee learning journey for this activity.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 |
Outcome
Interpret genomic variants to investigate the clinical significance using appropriate nomenclature. |