ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=)

gnomAD frequency: 0.00001  dbSNP: rs794726996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000488227 SCV000224979 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000488227 SCV000574755 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SLC2A1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001467472 SCV001671496 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-08-29 criteria provided, single submitter clinical testing

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