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: CA155062 130224
VCEP: Epilepsy Sodium Channel VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) | Benign | complex neurodevelopmental disorder | 2024-05-08 | 1.0 | ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN2A Version 1.0.0 | SCN2A |
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