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: CA254836 9579
VCEP: Mitochondrial Diseases VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | m.8344A>G | Pathogenic | mitochondrial disease | 2021-11-03 | 2.0 | - | N/A |
| View | m.8344A>G | Likely Pathogenic | mitochondrial disease | 2021-11-03 | 1.1 | - | N/A |
| View | m.8344A>G | Likely Pathogenic | mitochondrial disease | 2021-11-03 | 1.0 | - | N/A |
Showing 1 to 3 of 3 rows