The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA9043611 582572
VCEP: Cerebral Creatine Deficiency Syndromes VCEP
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.570+4C>T | Likely Benign | guanidinoacetate methyltransferase deficiency | 2024-09-12 | 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