ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr)

gnomAD frequency: 0.00006  dbSNP: rs199639208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805007 SCV000944949 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261220 SCV002542041 uncertain significance not provided 2021-11-09 criteria provided, single submitter clinical testing

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