Submissions for variant NM_002354.3(EPCAM):c.344T>C (p.Met115Thr)

gnomAD frequency: 0.58219  dbSNP: rs1126497

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162369	SCV000212678	benign	Hereditary cancer-predisposing syndrome	2013-01-16	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	RCV000244202	SCV000308851	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244202	SCV000539105	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
IntelligeneCG	RCV000515609	SCV000611714	benign	Lynch syndrome 1	2017-08-18	criteria provided, single submitter	clinical testing
Invitae	RCV001610467	SCV000625718	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001610467	SCV001838969	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27153395, 20683652, 22322561)
Genome-Nilou Lab	RCV001657909	SCV001876051	benign	Congenital diarrhea 5 with tufting enteropathy	2021-07-30	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315971	SCV004017450	benign	Lynch syndrome 8	2023-07-07	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000244202	SCV001906412	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000244202	SCV001962973	benign	not specified		no assertion criteria provided	clinical testing