ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) (rs34025424)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147525 SCV000171691 benign not specified 2013-06-20 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.
Genetic Services Laboratory,University of Chicago RCV000147525 SCV000194964 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147525 SCV000203593 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147525 SCV000311525 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271966 SCV000357715 benign GLUT1 deficiency syndrome 1 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.
Illumina Clinical Services Laboratory,Illumina RCV000327064 SCV000357716 benign Dystonia 9 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.
Invitae RCV001080125 SCV000557622 benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715098 SCV000845924 likely benign History of neurodevelopmental disorder 2016-06-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000463852 SCV001145694 benign not provided 2019-05-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000463852 SCV001147242 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing

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