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Questions and Answers
What is one way to determine if a variant is considered to be benign?
When determining if a variant is benign, what is considered to be important?
What is NOT a factor when determining if a variant is benign?
Study Notes
- A variant is considered to be benign if the allele frequency in a control population is greater than expected.
- If a variant is absent from (or at extremely low frequency in) a large (and adequately race-matched) population database, then the variant is considered to be benign.
- For a condition that is fully penetrant at an early age, if the variant is observed in a healthy adult individual, then the variant is considered to be benign.
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Description
Test your knowledge on the criteria for classifying genetic variants as benign based on population allele frequency and penetrance in healthy individuals.
