ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=)

dbSNP: rs143588685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194739 SCV000248910 uncertain significance not specified 2014-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001425993 SCV001628634 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-17 criteria provided, single submitter clinical testing

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