Submissions for variant NM_002354.3(EPCAM):c.77-11T>A

gnomAD frequency: 0.00733  dbSNP: rs114241106

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212493	SCV000168336	benign	not specified	2013-12-12	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.
Vantari Genetics	RCV000124896	SCV000267034	benign	Hereditary cancer-predisposing syndrome	2015-12-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000212493	SCV000806397	benign	not specified	2016-10-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004708015	SCV005241297	benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV004708015	SCV005329691	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	EPCAM: BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000212493	SCV001807862	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000212493	SCV001906182	benign	not specified		no assertion criteria provided	clinical testing