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Fig. 2 | Genome Medicine

Fig. 2

From: ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Fig. 2

Core VCI data model used for storing and retrieving data as JSON documents. The VCI uses a data model centered on a classification (dark blue center box), with relationships to other data models (white boxes). Each assertion is uniquely defined by the Variant, Disease and Mode of Inheritance models and is owned by a user or affiliation. It has two core attributes A status indicating its state in the current workflow cycle and B selected classification (Fig. 1). It uses different types of evidence (see Evidence Collection in Fig. 1) and applies an evidence criteria to arrive at the selected classification. Each evidence type can use articles as supplementary evidence. As an interpretation progresses through review statuses (such as provisional, approved, and published), snapshots of the full data at each review step are created. The relationships between data models are represented here, with 1:1 (solid green lines), 1 to many (N), or many to many (N to N) indicated

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