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: CA269784 130208
VCEP: Epilepsy Sodium Channel VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) | Uncertain Significance | generalized epilepsy with febrile seizures plus | 2024-11-05 | 1.0 | ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1A Version 1.0.0 | SCN1A |
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