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Interpret and Curate Variants/Adding Interpretations/Add Interpretation for Oncology Analysis

Add Interpretation for Tumor Analysis

1. From the Cases tab, select an analysis result to open the case.
2. In the Interpretation column, select Case Interpretation. If an interpretation exists for the variant, point to the interpretation and select Edit.
3. In the Selected Associations panel, select New Association, and then select an association level: Variant, Gene, or Gene-Fusion.
4. From the Transcript drop-down list, select a gene-transcript combination.

Each gene-transcript combination is listed with the gene name, transcript, HGVSc notation, and predicted consequence. Intergenic regions or regions where no transcripts are available are listed as Intergenis Region.

NOTE

The gene-transcript combination is dependent on the transcript source selected for the case. If you select a different transcript source, the gene-transcript selection is cleared.

5. Select the Interpretation drop-down arrow, and then select the appropriate interpretation:
L1 - National guidance—A national regulatory body has on-label treatment guidance, use of the variant in a companion test for a targeted therapy, and other treatment guidance for the variant.
L2 - Professional Society Guidance—A professional society has preapproval guidance, off-label guidance recommended by a professional organization, and other treatment guidance for the variant.
L3 - Clinical Trial Available—The variant meets the eligibility criteria for an existing clinical trial.
L4 - Other Reportable Variant—No treatment guidance or clinical trail exists for the variant. However, it is a high-confidence mutation and reporting it contributes to the molecular diagnosis of the sample.

Interpretations are subject to the discretion of the laboratory. The criteria provided for the interpretations are examples for assigning an interpretation based on best practices, ACMG guidelines, and actionability.

6. [Optional] Select the Association Type drop-down arrow, and then select an association type.
7. [Optional] Select Primary to indicate the variant as the primary association.

The primary variant is included in the case report.

8. Select Save.