Submissions for variant NM_004360.5(CDH1):c.1392C>T (p.Val464=)

gnomAD frequency: 0.00004  dbSNP: rs373811706

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163186	SCV000213707	likely benign	Hereditary cancer-predisposing syndrome	2014-05-28	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	RCV000233514	SCV000288432	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000424146	SCV000512520	benign	not specified	2015-04-07	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.
Color Diagnostics, LLC DBA Color Health	RCV000163186	SCV000684358	likely benign	Hereditary cancer-predisposing syndrome	2016-03-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000424146	SCV001363015	likely benign	not specified	2019-08-08	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	RCV000233514	SCV003926786	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	BP7 (PMID: 30311375)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477587	SCV004220786	likely benign	not provided	2023-09-16	criteria provided, single submitter	clinical testing