ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1229+11G>A

gnomAD frequency: 0.75356  dbSNP: rs1871137
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180676 SCV000233155 benign not specified 2014-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180676 SCV000313839 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391383 SCV000377434 benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 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 RCV000391383 SCV001723681 benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675353 SCV001897900 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000391383 SCV001934071 benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675353 SCV000801019 benign not provided 2015-10-23 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000180676 SCV001744460 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000180676 SCV001956390 benign not specified no assertion criteria provided clinical testing

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