Submissions for variant NM_004360.5(CDH1):c.2640G>A (p.Glu880=)

dbSNP: rs864622218

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205883	SCV000259745	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-12-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580597	SCV000684450	likely benign	Hereditary cancer-predisposing syndrome	2017-04-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000580597	SCV001177108	likely benign	Hereditary cancer-predisposing syndrome	2018-06-25	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	RCV000205883	SCV003926974	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	PM2 (PMID: 30311375)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316130	SCV004017029	likely benign	Malignant tumor of prostate	2023-07-07	criteria provided, single submitter	clinical testing