Scripps Genome ADVISER | Annotation and Distributed Variant Interpretation Server
Scripps Genome ADVISER | Annotation and Distributed Variant Interpretation Server

ADVISER Scoring Table


Category 1: sequence variation is previously reported and is a recognized cause of the disorder
  • Sequence variant is reported in the literature as causal to disease
  • Variant is rare

Category 2: sequence variation is previously unreported and is of the type that is expected to cause the disorder
  • Variant is rare
  • Variant is predicted to damage protein function with high confidence

Category 3: sequence variation is previously unreported and is of the type which may or may not be causative of the disorder
  • Variant is rare
  • Variant is predicted to damage protein function with moderate confidence
OR
  • Variant is uncommon
  • Variant is predicted to damage protein function with high confidence

Category 4: sequence variation is previously unreported and is probably not causative of disease
  • Variant is rare
  • Variant is predicted to damage protein function with low confidence
  • Variant is predicted to damage regulatory function with high confidence
OR
  • Variant is uncommon
  • Variant is predicted to damage protein function with moderate confidence

Category 5: sequence variation is previously reported and is a recognized neutral variant
  • Variant is uncommon
  • Variant is not predicted to damage protein function
OR
  • Variant is common

If none of the above are met, "-~-~-" is reported in the ADVISER score column.

Scripps Genome ADVISER | Annotation and Distributed Variant Interpretation Server