Submissions for variant NM_000152.5(GAA):c.1754+12G>A

gnomAD frequency: 0.06396  dbSNP: rs2304840

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078162	SCV000110000	benign	not specified	2012-10-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078162	SCV000302668	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000261416	SCV000407285	benign	Glycogen storage disease, type II	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000261416	SCV001731335	benign	Glycogen storage disease, type II	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000261416	SCV001754721	benign	Glycogen storage disease, type II	2021-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000675231	SCV001861871	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000261416	SCV002050124	benign	Glycogen storage disease, type II	2023-11-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675231	SCV000800877	benign	not provided	2017-04-18	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078162	SCV001929515	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078162	SCV001968079	benign	not specified		no assertion criteria provided	clinical testing