Submissions for variant NM_004360.5(CDH1):c.375C>T (p.Pro125=)

dbSNP: rs773044699

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698142	SCV000525613	likely benign	not provided	2019-09-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551351	SCV000637820	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-11-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001177838	SCV001342111	likely benign	Hereditary cancer-predisposing syndrome	2019-12-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001177838	SCV002623030	likely benign	Hereditary cancer-predisposing syndrome	2019-08-19	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.
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	RCV000551351	SCV003927027	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	BP7 (PMID: 30311375)
Myriad Genetics, Inc.	RCV000551351	SCV005404246	benign	Hereditary diffuse gastric adenocarcinoma	2024-09-12	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.