Submissions for variant NM_000152.5(GAA):c.1438-19G>C

gnomAD frequency: 0.65495  dbSNP: rs2304844

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078158	SCV000109996	benign	not specified	2018-09-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078158	SCV000302661	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000610914	SCV001725522	benign	Glycogen storage disease, type II	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000610914	SCV001738037	benign	Glycogen storage disease, type II	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675229	SCV001943123	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610914	SCV000733731	benign	Glycogen storage disease, type II		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675229	SCV000800875	benign	not provided	2015-10-19	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078158	SCV001926390	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078158	SCV001953973	benign	not specified		no assertion criteria provided	clinical testing