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: CA320215 214322
VCEP: Mitochondrial Diseases VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) | Pathogenic | ethylmalonic encephalopathy | 2021-07-27 | 1.0 | - | ETHE1 |
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