ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)

dbSNP: rs2124449313
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366831 SCV001563148 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2021-08-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473283 SCV002770878 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446730 SCV004173363 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446729 SCV004173364 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446727 SCV004173365 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446728 SCV004173366 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446731 SCV004173368 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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