Technical Reference and Examples


Each of the data types (accessible through the links to the right) are described along with examples of data produced by the ClinGen Data Model Working Group (DMWG) in collaboration with molecular analysts who are also members of the ClinGen consortium.

Interpretations are modeled as SEPIO Assertions using SEPIO EvidenceLines that incorporate Assertions of the individual ACMG-AMP criteria (e.g., PVS1, PM2).

To get a feel for the overall structure of an interpretation, the top-level object is VariantInterpretation. Particular examples that are illustrative include VarInterp274 and VarInterp063.