ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.319A>G (p.Met107Val)

gnomAD frequency: 0.00707  dbSNP: rs138454333
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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 RCV000253432 SCV000302845 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401836 SCV000480529 benign Non-ketotic hyperglycinemia 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000401836 SCV000636403 benign Non-ketotic hyperglycinemia 2024-02-01 criteria provided, single submitter clinical testing
Elsea Laboratory, Baylor College of Medicine RCV000401836 SCV001424214 uncertain significance Non-ketotic hyperglycinemia 2020-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001610566 SCV001842427 benign not provided 2018-07-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27243974)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000253432 SCV002050864 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000401836 SCV001458173 benign Non-ketotic hyperglycinemia 2020-09-16 no assertion criteria provided clinical testing

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