Submissions for variant NM_002354.3(EPCAM):c.858G>A (p.Leu286=)

gnomAD frequency: 0.00222  dbSNP: rs138718438

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212494	SCV000168334	benign	not specified	2013-11-26	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.
Ambry Genetics	RCV000124894	SCV000212669	likely benign	Hereditary cancer-predisposing syndrome	2012-06-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003654204	SCV000252773	benign	not provided	2023-08-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000212494	SCV000806399	benign	not specified	2017-03-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000212494	SCV002070913	likely benign	not specified	2021-12-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000124894	SCV002535906	benign	Hereditary cancer-predisposing syndrome	2021-01-26	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315849	SCV004017455	benign	Lynch syndrome 8	2023-07-07	criteria provided, single submitter	clinical testing