Submissions for variant NM_005670.4(EPM2A):c.402G>A (p.Gly134=)

gnomAD frequency: 0.18342  dbSNP: rs35230590

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116986	SCV000311210	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576489	SCV000677290	benign	Lafora disease	2017-04-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312107	SCV000846101	benign	Inborn genetic diseases	2016-01-08	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.
Invitae	RCV001509745	SCV001716606	benign	Progressive myoclonic epilepsy	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000675701	SCV001870167	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116986	SCV000151107	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic	RCV000675701	SCV000801414	benign	not provided	2015-10-19	no assertion criteria provided	clinical testing