Submissions for variant NM_001958.5(EEF1A2):c.30C>T (p.Ile10=)

gnomAD frequency: 0.00020  dbSNP: rs376374917

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951189	SCV001097562	likely benign	Developmental and epileptic encephalopathy, 33	2023-12-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001712828	SCV001941794	benign	not provided	2018-12-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818966	SCV002066567	benign	not specified	2017-08-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001712828	SCV002585895	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	EEF1A2: BP4, BP7
Ambry Genetics	RCV002320167	SCV002605899	likely benign	Inborn genetic diseases	2017-12-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.