Submissions for variant NM_004360.5(CDH1):c.27G>A (p.Ser9=)

gnomAD frequency: 0.00001  dbSNP: rs786201257

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163182	SCV000213703	likely benign	Hereditary cancer-predisposing syndrome	2015-01-02	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.
Color Diagnostics, LLC DBA Color Health	RCV000163182	SCV000537463	likely benign	Hereditary cancer-predisposing syndrome	2015-08-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467783	SCV000557388	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001528439	SCV001945434	benign	not provided	2015-05-04	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001528439	SCV002046381	benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267900	SCV002551737	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	RCV000467783	SCV003926693	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	Not applicable criteria (PMID: 30311375)
CeGaT Center for Human Genetics Tuebingen	RCV001528439	SCV004140027	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CDH1: BP4, BP7
Myriad Genetics, Inc.	RCV000467783	SCV005405284	benign	Hereditary diffuse gastric adenocarcinoma	2024-09-10	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528439	SCV001740192	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001528439	SCV001808404	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952819	SCV004771159	likely benign	CDH1-related disorder	2020-02-26	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).