The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000546.5(TP53):c.1066G>C (p.Gly356Arg) | Likely Benign | Li-Fraumeni syndrome | 2024-09-06 | 2.0 | ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.0.0 | TP53 |
| View | NM_000546.5(TP53):c.1066G>C (p.Gly356Arg) | Likely Benign | Li-Fraumeni syndrome 1 | 2021-09-24 | 1.0 | - | TP53 |
Showing 1 to 2 of 2 rows