ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.276-8G>A

gnomAD frequency: 0.00005  dbSNP: rs373084446
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000472258 SCV000514676 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088195 SCV000557626 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000472258 SCV001147240 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000472258 SCV001957834 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000472258 SCV001965461 likely benign not provided no assertion criteria provided clinical testing

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