Submissions for variant NM_002354.3(EPCAM):c.859-6A>G

gnomAD frequency: 0.00191  dbSNP: rs150307203

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003539793	SCV000166506	benign	not provided	2024-04-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000124895	SCV000168335	benign	not specified	2013-11-01	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.
PreventionGenetics, part of Exact Sciences	RCV000124895	SCV000806401	benign	not specified	2017-12-06	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000124895	SCV002552167	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315818	SCV004017457	benign	Lynch syndrome 8	2023-07-07	criteria provided, single submitter	clinical testing
Ding PR Lab, Sun Yat-sen University Cancer Center	RCV001093675	SCV001250856	uncertain significance	Lynch syndrome 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000124895	SCV001808303	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000124895	SCV001924866	benign	not specified		no assertion criteria provided	clinical testing