ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.417C>T (p.Phe139=) (rs144538918)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081434 SCV000113365 benign not specified 2013-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000081434 SCV000171695 benign not specified 2013-04-18 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.
Illumina Clinical Services Laboratory,Illumina RCV000320845 SCV000357699 benign Dystonia 9 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.
Illumina Clinical Services Laboratory,Illumina RCV000377815 SCV000357700 benign GLUT1 deficiency syndrome 1 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.
Invitae RCV001084153 SCV000557635 benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715622 SCV000846451 benign History of neurodevelopmental disorder 2016-03-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Subpopulation frequency in support of benign classification;Other data supporting benign classification
Athena Diagnostics Inc RCV000472423 SCV001145696 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081434 SCV000194967 likely benign not specified no assertion criteria provided clinical testing

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