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: CA214587 194857
VCEP: Epilepsy Sodium Channel VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) | Benign | developmental and epileptic encephalopathy | 2024-05-09 | 1.0 | ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN3A Version 1.0.0 | SCN3A |
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