The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA314840 205598
VCEP: Cerebral Creatine Deficiency Syndromes VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) | Uncertain Significance | guanidinoacetate methyltransferase deficiency | 2023-03-09 | 1.0 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 1.1.0 | GAMT |
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