Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) | Pathogenic | guanidinoacetate methyltransferase deficiency | 2023-11-08 | 1.0 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 1.1.0 | GAMT |
Showing 1 to 1 of 1 rows