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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) | Benign | complex neurodevelopmental disorder | 2024-05-09 | 1.0 | ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN8A Version 1.0.0 | SCN8A |
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