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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) | Likely Pathogenic | creatine transporter deficiency | 2022-10-08 | 1.0 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1 | SLC6A8 |
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