ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.822C>T (p.Ile274=)

gnomAD frequency: 0.00004  dbSNP: rs368242382
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720199 SCV000524723 likely benign not provided 2019-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864617 SCV001005440 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446008 SCV004172908 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446007 SCV004172909 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446005 SCV004172910 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446006 SCV004172911 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446009 SCV004172912 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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