ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.19-207T>C

gnomAD frequency: 0.01173  dbSNP: rs41310434
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487712 SCV000574756 benign not provided 2024-07-01 criteria provided, single submitter clinical testing SLC2A1: BS1, BS2
Eurofins Ntd Llc (ga) RCV000598131 SCV000705073 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512190 SCV001719556 benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446082 SCV004173996 benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446081 SCV004173997 benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446079 SCV004173998 benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446080 SCV004173999 benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446083 SCV004174000 benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000487712 SCV005288385 benign not provided criteria provided, single submitter not provided

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