ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.*6A>T (rs10431213)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245279 SCV000313835 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284196 SCV000377412 benign Glycogen storage disease due to hepatic glycogen synthase deficiency 2018-01-13 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.
GeneDx RCV000675345 SCV001871848 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000284196 SCV001934067 benign Glycogen storage disease due to hepatic glycogen synthase deficiency 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000675345 SCV000801011 benign not provided 2015-10-23 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000245279 SCV001742984 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000245279 SCV001959731 benign not specified no assertion criteria provided clinical testing

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