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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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000546.6(TP53):c.329G>A (p.Arg110His) | Likely Benign | Li-Fraumeni syndrome | 2025-01-16 | 1.1 | ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.2.0 | TP53 |
| View | NM_000546.5(TP53):c.329G>A (p.Arg110His) | Likely Benign | Li-Fraumeni syndrome | 2020-08-14 | 1.0 | - | TP53 |
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