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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Curation History
Variant: CA658683954 491497
VCEP: CDH1 VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_004360.5(CDH1):c.1443del (p.Asn481fs) | Pathogenic | CDH1-related diffuse gastric and lobular breast cancer | 2023-08-04 | 3.0 | ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1 | CDH1 |
View | NM_004360.5(CDH1):c.1443del (p.Asn481fs) | Pathogenic | hereditary diffuse gastric cancer | 2021-05-05 | 2.0 | - | CDH1 |
View | NM_004360.5(CDH1):c.1443del (p.Asn481fs) | Likely Pathogenic | hereditary diffuse gastric cancer | 2020-09-16 | 1.0 | - | CDH1 |
Showing 1 to 3 of 3 rows