Multiple choice

Which of the following measures clinical validity?

  1. The likelihood that a mutation stated to be present is in fact present.

  2. The likelihood that identification of a mutation correctly predicts presence or absence of disease.

  3. The likelihood that a mutation test will successfully identify a pathogenic mutation.

  4. The likelihood that an identified mutation is pathogenic vs. a benign variant.

Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation

Clinical validity is the likelihood that a mutation correctly predicts the presence or absence of disease.