ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT

dbSNP: rs2124446051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807798 SCV002056597 benign Dystonia 9 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807796 SCV002056708 benign Encephalopathy due to GLUT1 deficiency 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807797 SCV002057147 benign Childhood onset GLUT1 deficiency syndrome 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807799 SCV002057258 benign Hereditary cryohydrocytosis with reduced stomatin 2021-07-15 criteria provided, single submitter clinical testing

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