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: CA397843908 656751
VCEP: TP53 VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001126112.2(TP53):c.380C>A (p.Ser127Tyr) | Pathogenic | Li-Fraumeni syndrome 1 | 2021-06-16 | 1.0 | - | TP53 |
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