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_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) | Benign | CDH1-related diffuse gastric and lobular breast cancer | 2023-08-03 | 1.0 | ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1 | CDH1 |
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