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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:
Genes:
UBE3A, SLC9A6, TCF4, MECP2, FOXG1, CDKL5
Title
Genes
Version
Released Date
CDKL5, FOXG1, MECP2, SLC9A6, TCF4, UBE3A
2.0.0
12/31/2021
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Archived Document
CDKL5, FOXG1, MECP2, SLC9A6, TCF4, UBE3A
1.0.0
2/17/2021