ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.555C>T (p.Gly185=)

gnomAD frequency: 0.00314  dbSNP: rs2229612
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703702 SCV000522345 benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000973822 SCV001121604 benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000973822 SCV001295465 likely benign Glycogen storage disease due to muscle and heart 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000973822 SCV004564862 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-12-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001703702 SCV005209807 likely benign not provided criteria provided, single submitter not provided

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