ClinVar Miner

Submissions for variant NM_006516.2(SLC2A1):c.-490G>C

gnomAD frequency: 0.14227  dbSNP: rs3754226
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347903 SCV000357745 benign Dystonic disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396103 SCV000357746 benign GLUT1 deficiency syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653459 SCV001870049 benign not provided 2018-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445908 SCV004174032 benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445907 SCV004174033 benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445905 SCV004174034 benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445906 SCV004174035 benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445909 SCV004174036 benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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