ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)

gnomAD frequency: 0.00004  dbSNP: rs780638574
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503849 SCV000597088 likely benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866190 SCV001007252 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310846 SCV001500807 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SLC2A1: BP4, BP7
GeneDx RCV001310846 SCV001778205 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413380 SCV002713231 likely benign Inborn genetic diseases 2019-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003446097 SCV004173588 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446096 SCV004173590 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446094 SCV004173591 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446095 SCV004173592 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446098 SCV004173593 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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