ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)

gnomAD frequency: 0.00004  dbSNP: rs142986731
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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 RCV000476048 SCV000545834 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-11-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593978 SCV000706627 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000593978 SCV001712991 uncertain significance not provided 2019-04-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320647 SCV004024812 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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