ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=)

gnomAD frequency: 0.00002  dbSNP: rs145962512
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952594 SCV001099109 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001575044 SCV001801956 likely benign not provided 2019-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446555 SCV004172720 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446554 SCV004172721 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446552 SCV004172722 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446553 SCV004172723 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446556 SCV004172724 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001575044 SCV005263086 likely benign not provided criteria provided, single submitter not provided

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