Submissions for variant NM_000152.5(GAA):c.1327-18A>G

gnomAD frequency: 0.71811  dbSNP: rs2278619

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078156	SCV000109994	benign	not specified	2018-09-04	criteria provided, single submitter	clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000078156	SCV000221686	likely benign	not specified	2016-09-28	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV000078156	SCV000302659	benign	not specified		criteria provided, single submitter	clinical testing
Mendelics	RCV000606017	SCV001140841	benign	Glycogen storage disease, type II	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000606017	SCV001730024	benign	Glycogen storage disease, type II	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000606017	SCV001738034	benign	Glycogen storage disease, type II	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675227	SCV001940313	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606017	SCV000733730	benign	Glycogen storage disease, type II		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675227	SCV000800873	benign	not provided	2015-10-19	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078156	SCV001928952	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078156	SCV001958326	benign	not specified		no assertion criteria provided	clinical testing