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: CA658683954 491497
VCEP: CDH1 VCEP
Showing 1 to 3 of 3 rows
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 cancer2023-08-04
3.0
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1CDH1
View NM_004360.5(CDH1):c.1443del (p.Asn481fs)
Pathogenic
hereditary diffuse gastric cancer2021-05-05
2.0
-CDH1
View NM_004360.5(CDH1):c.1443del (p.Asn481fs)
Likely Pathogenic
hereditary diffuse gastric cancer2020-09-16
1.0
-CDH1
Showing 1 to 3 of 3 rows
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