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: CA008122 3118
VCEP: Potassium Channel Arrhythmia VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) | Pathogenic | long QT syndrome 1 | 2025-07-02 | 1.0 | ClinGen Potassium Channel Arrhythmia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KCNQ1 Version 1.0.0 | KCNQ1 |
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