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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) | Pathogenic | Rett syndrome | 2021-05-17 | 1.0 | - | MECP2 |
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