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: CA120590 9628
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.1555A>G | Pathogenic | mitochondrial disease | 2023-02-17 | 1.1 | ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA | MT-RNR1 |
| View | NC_012920.1:m.1555A>G | Pathogenic | mitochondrial disease | 2023-02-17 | 1.0 | ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA | N/A |
Showing 1 to 2 of 2 rows