ClinGen Curation Activities

Access education materials, access tools, and view results for each of our curation activities by clicking the boxes below.

To see a high-level summary of ClinGen's Gene-Disease Validity, Variant Pathogenicity, Clinical Actionability, and Dosage Sensitivity curation results, visit our ClinGen Curation Summary Statistics page


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Gene-Disease Validity

Can variation in this gene cause disease?

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Variant Pathogenicity

Which changes in the gene cause disease?

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Clinical Actionability

Are there actions that could be taken to improve outcomes for patients with this genetic risk?

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Dosage Sensitivity

Does loss or gain of a copy of this gene or genomic region result in disease?

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Somatic Cancer Variant

Somatic Cancer Clinical Domain Working Group curates the clinical significance of genomic anomalies associated with different cancer types within the following diseases specific task forces - pediatric cancers, pancreatic cancer, lung cancer and genitourinary cancers

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Baseline Annotation

Baseline annotation focuses on annotating evidence in the biomedical literature in a structured and standardized way, thus supporting our expert panels, working groups, and curation processes.

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