ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.1296C>T (p.Tyr432=) (rs75485205)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081428 SCV000113359 benign not specified 2013-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000081428 SCV000171708 benign not specified 2013-06-07 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 RCV000081428 SCV000194961 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV000457829 SCV000557630 benign GLUT1 deficiency syndrome 1, autosomal recessive 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718252 SCV000849114 likely benign History of neurodevelopmental disorder 2017-02-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081428 SCV001927946 benign not specified no assertion criteria provided clinical testing

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