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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) | Pathogenic | 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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