ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.354C>T (p.Ser118=)

dbSNP: rs1393465480
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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 RCV000921717 SCV001067129 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-10-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003151823 SCV003804171 likely benign Encephalopathy due to GLUT1 deficiency 2023-02-17 criteria provided, single submitter clinical testing Likely benign (II) (PM2, BP2, BP6, BP7)
Genome-Nilou Lab RCV003446529 SCV004173488 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446528 SCV004173490 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003151823 SCV004173491 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446527 SCV004173492 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446530 SCV004173493 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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