Table 1. eMERGE Reporting Use Cases.

This table lists all of the eMERGE reporting use cases. The first column is a breakdown of reporting result types and the second column lists more specific outcomes for the corresponding reporting result type. The specialized reporting use cases are specified for the associated eMERGE study sites.

Standard Reporting Use Cases
Diagnostic Gene Panel
Reported Variants	Single-nucleotide variants (SNVs), Insertions or deletions (InDels), copy number variants (CNVs)
Medically Significant Findings for Indication	Pathogenic, Likely Pathogenic, Uncertain Significance
Secondary Findings	Medically significant findings in a gene unrelated to the indication for testing
Overall Interpretations	Positive, Negative, Inconclusive
Pharmacogenomic Gene Panel
PGx Phenotype Findings	Efficacy, Metabolism, Transporter Function
Reported Diplotypes	Simple, Complex, Wildtype, Non-Wild Type
Specialized Reporting Use Cases
LDLR Scores-Polygenic Risk Scores	Mayo Clinic, an eMERGE Study Site
Research Only Reports	Columbia University, an eMERGE Study Site