Submissions for variant NM_004360.5(CDH1):c.699C>T (p.His233=)

gnomAD frequency: 0.00005  dbSNP: rs115494727

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212354	SCV000167591	benign	not specified	2013-12-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000124177	SCV000213223	likely benign	Hereditary cancer-predisposing syndrome	2014-09-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001083286	SCV000253427	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-01-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000124177	SCV000684479	likely benign	Hereditary cancer-predisposing syndrome	2015-11-13	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759016	SCV000888038	benign	not provided	2018-06-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000212354	SCV001363230	benign	not specified	2019-09-11	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000124177	SCV002529205	likely benign	Hereditary cancer-predisposing syndrome	2021-05-28	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000212354	SCV002551758	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	RCV001083286	SCV003926681	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	BP7 (PMID: 30311375)
PreventionGenetics, part of Exact Sciences	RCV003894977	SCV004709497	likely benign	CDH1-related condition	2020-12-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).