ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.321C>T (p.Ala107=) (rs398124230)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723565 SCV000113361 uncertain significance not provided 2012-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000081430 SCV000725257 likely benign not specified 2017-12-01 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.
Invitae RCV001088830 SCV001005837 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723565 SCV001147239 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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