ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.*23T>C

gnomAD frequency: 0.73413  dbSNP: rs2229611
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249250 SCV000302652 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338206 SCV000402987 benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 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.
Genome-Nilou Lab RCV000338206 SCV001754708 benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000675766 SCV001895945 benign not provided 2018-06-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33101979, 28502559)
Labcorp Genetics (formerly Invitae), Labcorp RCV000338206 SCV003246362 benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2024-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675766 SCV005250539 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675766 SCV000801487 benign not provided 2015-10-19 no assertion criteria provided clinical testing
Natera, Inc. RCV000338206 SCV002093338 benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-04-12 no assertion criteria provided clinical testing

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