ClinGen Curation Activities

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


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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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