Submissions for variant NM_004360.5(CDH1):c.532-18C>T

gnomAD frequency: 0.00398  dbSNP: rs200673941

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212352	SCV000149771	benign	not specified	2014-07-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000119120	SCV000153833	benign	Hereditary diffuse gastric adenocarcinoma	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000115862	SCV000172889	benign	Hereditary cancer-predisposing syndrome	2014-12-03	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences	RCV000212352	SCV000310134	likely benign	not specified		criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000115862	SCV000576453	likely benign	Hereditary cancer-predisposing syndrome	2017-02-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000115862	SCV000684468	likely benign	Hereditary cancer-predisposing syndrome	2014-12-09	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000212352	SCV000860261	benign	not specified	2018-04-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679551	SCV001150947	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	CDH1: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000679551	SCV001472271	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000679551	SCV002009848	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000115862	SCV002529191	benign	Hereditary cancer-predisposing syndrome	2021-05-02	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000212352	SCV002551753	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149807	SCV003837765	likely benign	Breast and/or ovarian cancer	2021-08-09	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	RCV000119120	SCV003926665	benign	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	BA1; BS2 (PMID: 30311375)
Breakthrough Genomics, Breakthrough Genomics	RCV000679551	SCV005219058	likely benign	not provided		criteria provided, single submitter	not provided
Myriad Genetics, Inc.	RCV000119120	SCV005405298	benign	Hereditary diffuse gastric adenocarcinoma	2024-09-13	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.
Mayo Clinic Laboratories, Mayo Clinic	RCV000212352	SCV000691815	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000679551	SCV001741428	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000212352	SCV001809005	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000212352	SCV001921442	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679551	SCV001953605	likely benign	not provided		no assertion criteria provided	clinical testing