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_000546.5(TP53):c.511G>A (p.Glu171Lys) | Likely Benign | Li-Fraumeni syndrome | 2025-06-23 | 2.0 | ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.3.0 | TP53 |
| View | NM_000546.5(TP53):c.511G>A (p.Glu171Lys) | Uncertain Significance | Li-Fraumeni syndrome 1 | 2021-10-11 | 1.1 | - | TP53 |
| View | NM_000546.5(TP53):c.511G>A (p.Glu171Lys) | Uncertain Significance | Li-Fraumeni syndrome 1 | 2021-10-11 | 1.0 | - | TP53 |
Showing 1 to 3 of 3 rows