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: CA340929 9650
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.9176T>G | Likely Pathogenic | mitochondrial disease | 2022-03-24 | 1.0 | - | N/A |
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