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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) | Pathogenic | creatine transporter deficiency | 2023-11-08 | 1.0 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0 | SLC6A8 |
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