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Criteria Specification (CSpec) Registry is intended to provide access to the Criteria Specifications used and applied by ClinGen Variant Curation Expert Panels and biocurators in the classification of variants.

For general information about the ClinGen Expert Panels and Variant Curation please visit: Clinical Domain Working Groups. For specific inquiries regarding content correction or adding a new criteria specification refer to the Help page.

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Approval History

Variant Curation Expert Panel:
Leber Congenital Amaurosis/early onset Retinal Dystrophy Variant Curation Expert Panel
Genes:
RPE65
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