Submissions for variant NM_000642.3(AGL):c.3260-19G>A

gnomAD frequency: 0.01279  dbSNP: rs140333425

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251090	SCV000305392	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000251090	SCV000518640	benign	not specified	2016-02-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522841	SCV001732457	benign	Glycogen storage disease type III	2025-02-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001522841	SCV002055068	benign	Glycogen storage disease type III	2021-07-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000675336	SCV003800330	benign	not provided	2024-10-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675336	SCV005283833	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675336	SCV000801002	likely benign	not provided	2017-03-14	no assertion criteria provided	clinical testing