Submissions for variant NM_000152.5(GAA):c.858+8G>A

gnomAD frequency: 0.00055  dbSNP: rs5822325

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117108	SCV000151266	benign	not specified	2014-03-13	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117108	SCV000202762	benign	not specified	2013-12-06	criteria provided, single submitter	clinical testing
Invitae	RCV001085423	SCV000626648	benign	Glycogen storage disease, type II	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000117108	SCV000729077	likely benign	not specified	2017-09-12	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.
Illumina Laboratory Services, Illumina	RCV001085423	SCV001285459	likely benign	Glycogen storage disease, type II	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV001085423	SCV001738014	benign	Glycogen storage disease, type II	2021-06-10	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675222	SCV000800868	likely benign	not provided	2015-10-19	no assertion criteria provided	clinical testing