The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA294544 143541
VCEP: Rett and Angelman-like Disorders VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) | Uncertain Significance | Rett syndrome | 2023-09-15 | 2.1 | - | MECP2 |
View | NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) | Uncertain Significance | Rett syndrome | 2023-08-24 | 2.0 | - | MECP2 |
View | NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) | Uncertain Significance | Rett syndrome | 2021-12-27 | 1.0 | - | MECP2 |
Showing 1 to 3 of 3 rows