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: CA323094 214936
VCEP: Mitochondrial Diseases VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000284.3(PDHA1):c.1132C>T (p.Arg378Cys) | Pathogenic | pyruvate dehydrogenase deficiency | 2021-10-25 | 1.0 | - | PDHA1 |
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