Submissions for variant NM_006516.4(SLC2A1):c.679+4C>T

dbSNP: rs139492241

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186662	SCV000171698	benign	not specified	2013-07-24	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.
Eurofins Ntd Llc (ga)	RCV000723793	SCV000203590	uncertain significance	not provided	2015-01-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087312	SCV000649808	likely benign	GLUT1 deficiency syndrome 1, autosomal recessive	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312940	SCV000848845	benign	Inborn genetic diseases	2019-03-21	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.
CeGaT Center for Human Genetics Tuebingen	RCV000723793	SCV002821391	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	SLC2A1: BP4
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723793	SCV001930092	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723793	SCV001972383	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551226	SCV004731225	likely benign	SLC2A1-related disorder	2019-05-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).