ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys)

gnomAD frequency: 0.00022  dbSNP: rs200247956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450120 SCV001653717 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-09-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532531 SCV001748136 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001532531 SCV004237319 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016533 SCV005648790 uncertain significance Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2024-02-08 criteria provided, single submitter clinical testing

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