Submissions for variant NM_002354.3(EPCAM):c.492-5T>C

gnomAD frequency: 0.02826  dbSNP: rs78608315

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001657754	SCV000153968	benign	not provided	2024-10-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000162370	SCV000212679	likely benign	Hereditary cancer-predisposing syndrome	2013-01-08	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.
Vantari Genetics	RCV000162370	SCV000267035	benign	Hereditary cancer-predisposing syndrome	2015-12-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000254154	SCV000308853	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001657754	SCV001875482	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30461124)
Sema4, Sema4	RCV000162370	SCV002535904	benign	Hereditary cancer-predisposing syndrome	2020-02-24	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315711	SCV004017453	benign	Lynch syndrome 8	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001657754	SCV005263949	likely benign	not provided		criteria provided, single submitter	not provided
True Health Diagnostics	RCV000162370	SCV000788008	likely benign	Hereditary cancer-predisposing syndrome	2017-11-27	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000254154	SCV001808397	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000254154	SCV001906451	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001657754	SCV001930756	likely benign	not provided		no assertion criteria provided	clinical testing