| View | NM_000156.6(GAMT):c.689C>T (p.Thr230Met) | Uncertain Significance | guanidinoacetate methyltransferase deficiency | 2025-04-28 | 1.4 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 2.0.0 | GAMT |
| View | NM_000156.6(GAMT):c.689C>T (p.Thr230Met) | Uncertain Significance | guanidinoacetate methyltransferase deficiency | 2024-05-01 | 1.3 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP
Variant Interpretation Guidelines for GAMT Version 1 | GAMT |
| View | NM_000156.6(GAMT):c.689C>T (p.Thr230Met) | Uncertain Significance | guanidinoacetate methyltransferase deficiency | 2024-05-01 | 1.2 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP
Variant Interpretation Guidelines for GAMT Version 1 | GAMT |
| View | NM_000156.6(GAMT):c.689C>T (p.Thr230Met) | Uncertain Significance | guanidinoacetate methyltransferase deficiency | 2024-05-01 | 1.1 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP
Variant Interpretation Guidelines for GAMT Version 1 | GAMT |
| View | NM_000156.6(GAMT):c.689C>T (p.Thr230Met) | Uncertain Significance | guanidinoacetate methyltransferase deficiency | 2022-10-07 | 1.0 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP
Variant Interpretation Guidelines for GAMT Version 1 | GAMT |