The following documents and presentations are available to help people learn and understand the Clinical Actionability curation process. For questions about existing materials or requests for new materials, contact us at clingen@clinicalgenome.org.


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Publication: Official ClinGen Clinical Actionability Method

Read the publication describing the ClinGen clinical actionability evaluation process (freely available through PubMed Commons).

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Semi-quantitative Scoring Metric

Specific outcome-intervention pairs are scored for (i) severity of the outcome; (ii) likelihood of the disease; (iii) effectiveness of the intervention; and (iv) nature of the intervention in terms of burden and risk to the patient. The Semi-Quantiative Metric used by the ClinGen Actionability group is based on a similar metric developed for the NCGENES project. Read the publication here (freely available through PubMed Commons).

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Evidence Synthesis Protocol

The Evidence Synthesis Protocol used by the ClinGen Actionability work group is based on methods developed by EGAPP. Read the publication here (freely available through PubMed Commons).

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Actionability Workgroup Protocol

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Clinical Actionability Overview Slides

Overview of the clinical actionability evaluation process, prepared February 2017


ViewClinGen Pediatric Actionability Workgroup Protocol

Curation Activity Procedures - February 16, 2019 - Generation of Summary Reports and Semi-Quantitative Metric Scoring