Submissions for variant NM_006516.4(SLC2A1):c.972+7del

gnomAD frequency: 0.00016  dbSNP: rs531385270

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724290	SCV000232241	uncertain significance	not provided	2014-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000189344	SCV000242979	benign	not specified	2013-12-02	criteria provided, single submitter	clinical testing	The variant is found in EPILEPSY panel(s).
Illumina Laboratory Services, Illumina	RCV000396792	SCV000357683	uncertain significance	GLUT1 deficiency syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284359	SCV000357684	uncertain significance	Dystonic disorder	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087619	SCV000557631	likely benign	GLUT1 deficiency syndrome 1, autosomal recessive	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724290	SCV001961101	likely benign	not provided	2021-07-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000189344	SCV001926025	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724290	SCV001930197	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724290	SCV001973204	likely benign	not provided		no assertion criteria provided	clinical testing