ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.276-7T>C (rs369273744)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186661 SCV000171693 benign not specified 2013-07-24 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723792 SCV000203591 uncertain significance not provided 2015-01-26 criteria provided, single submitter clinical testing
Invitae RCV001088625 SCV000649802 benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing

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