ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.19-5C>T (rs376653618)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088710 SCV000769906 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761657 SCV000891829 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000761657 SCV000970301 likely benign not provided 2018-04-05 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195740 SCV001366160 benign Progressive extrapyramidal movement disorder; Cerebellar ataxia associated with quadrupedal gait 2018-10-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. This variant was detected in heterozygous state.

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