Submissions for variant NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)

gnomAD frequency: 0.97909  dbSNP: rs2172397

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001517921	SCV001726529	benign	Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001527499	SCV001738533	benign	Glycogen storage disease, type IV	2021-06-15	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001527500	SCV001738534	benign	Adult polyglucosan body disease	2021-06-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527499	SCV001933751	benign	Glycogen storage disease, type IV	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527500	SCV001933753	benign	Adult polyglucosan body disease	2021-08-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528213	SCV001739545	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001528213	SCV001919759	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528213	SCV001926530	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001527499	SCV002082385	benign	Glycogen storage disease, type IV	2019-08-28	no assertion criteria provided	clinical testing