Samples annotated with Opal Pipeline 4.3.2 and below include the Predicted Class field in the variant annotations.
The Predicted Class is computed using rules based on the 2008 American College of Medical Genetics and Genomics (ACMG) guidelines (Richards et al., 2008).
Note: In cases where ClinVar contains multiple submissions with conflicting classifications, the ClinVar classification is not used in Predicted Class assignment.
|Category||Rule for Predicted Class|
|Category 1 - Pathogenic||
|Category 2 - Likely Pathogenic||
|Category 3A – Uncertain Significance*||
|Category 3B - Uncertain Significance||
|Category 4 - Likely Benign||
|Category 5 - Benign||
|Category 6 - Disease Associated||
Richards, C.S., Bale, S., Bellissimo, D.B., Das, S., Grody, W.W., Hegde, M.R., Lyon, E., and Ward, B.E. (2008). ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genetics in Medicine 10, 294–300.