ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.973-17A>G

gnomAD frequency: 0.01025  dbSNP: rs111596088
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128112 SCV000171704 benign not specified 2013-03-15 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.
Eurofins Ntd Llc (ga) RCV000128112 SCV000702599 benign not specified 2016-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520530 SCV001729649 benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445541 SCV004172801 benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445540 SCV004172802 benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445538 SCV004172804 benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445539 SCV004172805 benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445542 SCV004172806 benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713354 SCV005288376 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000128112 SCV001930230 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000128112 SCV001952215 benign not specified no assertion criteria provided clinical testing

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