Submissions for variant NM_005670.4(EPM2A):c.393G>A (p.Glu131=)

gnomAD frequency: 0.00223  dbSNP: rs61758155

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116985	SCV000151106	likely benign	not specified	2014-03-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116985	SCV000227368	likely benign	not specified	2015-02-27	criteria provided, single submitter	clinical testing
Invitae	RCV001082328	SCV000288974	benign	Progressive myoclonic epilepsy	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000675702	SCV000613258	benign	not provided	2018-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313878	SCV000849267	likely benign	Inborn genetic diseases	2016-06-08	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.
GeneDx	RCV000675702	SCV001827290	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675702	SCV002062708	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	EPM2A: BP4, BP7, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000675702	SCV000801415	likely benign	not provided	2018-03-23	no assertion criteria provided	clinical testing