ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)

gnomAD frequency: 0.00002  dbSNP: rs74323945
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730291 SCV000858018 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855633 SCV002159487 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-10-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446407 SCV004173510 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446406 SCV004173512 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446404 SCV004173513 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446405 SCV004173514 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446408 SCV004173515 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000730291 SCV004237323 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing

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