ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)

dbSNP: rs864309522
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622580 SCV000740805 pathogenic Inborn genetic diseases 2016-05-04 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280695 SCV001467994 pathogenic not provided 2020-08-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001280695 SCV002020697 pathogenic not provided 2021-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001280695 SCV002496863 likely pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445691 SCV004172298 likely pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000202573 SCV000257535 pathogenic Hereditary cryohydrocytosis with reduced stomatin 2012-06-01 no assertion criteria provided literature only

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