Submissions for variant NM_000642.3(AGL):c.3384G>A (p.Ala1128=)

gnomAD frequency: 0.00383  dbSNP: rs149393587

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252381	SCV000305395	likely benign	not specified	2016-04-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000675339	SCV000534233	likely benign	not provided	2021-02-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079502	SCV000626727	benign	Glycogen storage disease type III	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001079502	SCV002055070	benign	Glycogen storage disease type III	2021-07-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000675339	SCV004563972	likely benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675339	SCV005258704	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675339	SCV000801005	likely benign	not provided	2017-04-03	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000675339	SCV001977836	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000252381	SCV001980395	benign	not specified		no assertion criteria provided	clinical testing