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: 3
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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 2023-11-25 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

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