ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.*3G>A

gnomAD frequency: 0.05534  dbSNP: rs1800317
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078153 SCV000109991 benign not specified 2013-08-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078153 SCV000302656 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388157 SCV000407310 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.
Phosphorus, Inc. RCV000388157 SCV000679763 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000675251 SCV001939521 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675251 SCV005248768 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675251 SCV000800898 benign not provided 2017-05-17 no assertion criteria provided clinical testing
Natera, Inc. RCV000388157 SCV002094490 benign Glycogen storage disease, type II 2019-11-22 no assertion criteria provided clinical testing

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