ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp)

dbSNP: rs864309514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003221858 SCV003916449 pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing SLC2A1: PM1, PM2, PP4:Moderate, PS3:Moderate, PP3, PS4:Supporting
OMIM RCV000202596 SCV000257534 pathogenic Hereditary cryohydrocytosis with reduced stomatin 2011-11-10 no assertion criteria provided literature only

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