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.391+15G>T | Likely Pathogenic | guanidinoacetate methyltransferase deficiency | 2025-03-14 | 1.0 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 2.0.0 | GAMT |
Showing 1 to 1 of 1 rows