Submissions for variant NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)

gnomAD frequency: 0.00232  dbSNP: rs113817924

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187612	SCV000241207	benign	not specified	2014-06-23	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	RCV000187612	SCV000310064	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000187612	SCV000343611	benign	not specified	2016-08-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307040	SCV000403685	uncertain significance	Progressive myoclonic epilepsy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000307040	SCV000556017	likely benign	Progressive myoclonic epilepsy	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317105	SCV000851168	benign	Inborn genetic diseases	2016-08-08	criteria provided, single submitter	clinical testing	This alteration is classified as 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.