ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1087A>G (p.Met363Val)

gnomAD frequency: 0.74398  dbSNP: rs2306180
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242605 SCV000313837 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297841 SCV000377438 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.
Mendelics RCV000297841 SCV001138660 benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000297841 SCV001719747 benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675355 SCV001831415 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000297841 SCV001934073 benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675355 SCV000801021 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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