ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) (rs2228500)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245226 SCV000303490 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000245226 SCV000332947 benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322166 SCV000379093 benign Glycogen storage disease, type VII 2018-03-06 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 RCV000245226 SCV000517627 benign not specified 2016-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000322166 SCV000604622 benign Glycogen storage disease, type VII 2020-08-31 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000322166 SCV000803447 benign Glycogen storage disease, type VII 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Glycogen storage disease VII, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 =>Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Invitae RCV000322166 SCV001719754 benign Glycogen storage disease, type VII 2020-11-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000322166 SCV001750026 benign Glycogen storage disease, type VII 2021-07-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675434 SCV000801114 benign not provided 2015-12-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000322166 SCV001457679 benign Glycogen storage disease, type VII 2020-09-16 no assertion criteria provided clinical testing

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