The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA10580066 230175
VCEP: CDH1 VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004360.5(CDH1):c.61C>G (p.Leu21Val) | Uncertain Significance | CDH1-related diffuse gastric and lobular breast cancer | 2023-08-21 | 2.0 | ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1 | CDH1 |
| View | NM_004360.5(CDH1):c.61C>G (p.Leu21Val) | Uncertain Significance | hereditary diffuse gastric cancer | 2020-09-16 | 1.0 | - | CDH1 |
Showing 1 to 2 of 2 rows