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_001126112.2(TP53):c.509C>T (p.Thr170Met) | Likely Benign | Li-Fraumeni syndrome | 2025-02-07 | 2.0 | ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.2.0 | TP53 |
| View | NM_001126112.2(TP53):c.509C>T (p.Thr170Met) | Likely Benign | Li-Fraumeni syndrome 1 | 2021-06-16 | 1.0 | - | TP53 |
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