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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.
Should you encounter any issues regarding the data displayed, lack of functionality or other problems, please let us know by contacting us via email.
Approval History
Variant Curation Expert Panel:
Genes:
UBE3A
Title
Genes
Version
Released Date
UBE3A
4.0.0
5/9/2023
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 3.0.0
Archived Document
UBE3A
3.0.0
11/10/2022
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Archived Document
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
Funding Agency:
