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: CA250380 9641
VCEP: Mitochondrial Diseases VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NC_012920.1:m.8993T>G | Pathogenic | mitochondrial disease | 2021-06-10 | 1.0 | - | MT-ATP6 |
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