Submissions for variant NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)

gnomAD frequency: 0.00643  dbSNP: rs142032474

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081377	SCV000113308	benign	not specified	2013-06-12	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000081377	SCV000297207	benign	not specified	2015-11-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000081377	SCV000518814	benign	not specified	2016-02-18	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514539	SCV000610555	likely benign	not provided	2017-03-17	criteria provided, single submitter	clinical testing
Invitae	RCV001083411	SCV000641216	benign	MOGS-congenital disorder of glycosylation	2024-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001083411	SCV001473065	benign	MOGS-congenital disorder of glycosylation	2022-09-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001083411	SCV002805408	likely benign	MOGS-congenital disorder of glycosylation	2021-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514539	SCV004155074	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	MOGS: BP4, BS2