ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.343C>T (p.Leu115=)

gnomAD frequency: 0.00006  dbSNP: rs539490455
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712201 SCV000514677 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000425718 SCV000615319 likely benign not specified 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866714 SCV001007846 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-10-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445934 SCV004173494 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445933 SCV004173495 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445931 SCV004173496 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445932 SCV004173497 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445935 SCV004173498 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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