Submissions for variant NM_004360.5(CDH1):c.2440-12CTT[2]

dbSNP: rs587782757

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000132277	SCV000187361	likely benign	Hereditary cancer-predisposing syndrome	2020-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206752	SCV000259595	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001719904	SCV000569012	likely benign	not provided	2018-11-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23197654)
Color Diagnostics, LLC DBA Color Health	RCV000132277	SCV000903082	likely benign	Hereditary cancer-predisposing syndrome	2016-07-11	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267885	SCV002551802	uncertain significance	not specified	2024-07-31	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	RCV000206752	SCV003926952	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	BP4 (PMID: 30311375)
PreventionGenetics, part of Exact Sciences	RCV003894998	SCV004716132	likely benign	CDH1-related disorder	2023-06-01	no assertion criteria provided	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).