VISION VARIATION DATABASE

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  • EPP: estimate of pathogenic probability; used to help clinicians decide whether a variations is likely to be responsible for a an individual's disease
  • EPP Scores
    0 - Benign
    1 - Possible low penetrance allele
    2 - Possible highly penetrant allele
    3 - Probable highly penetrant allele
  • In general, we consider a score of 2 or 3 to be disease causing and 0 or 1 to be benign.