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: CA314836 205596
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.707G>C (p.Gly236Ala) | 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 |
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