ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.864C>T (p.Asn288=)

gnomAD frequency: 0.00047  dbSNP: rs150384629
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718875 SCV000514682 benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863966 SCV001004702 benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374635 SCV002684252 benign Inborn genetic diseases 2019-01-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen RCV001718875 SCV004127894 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SLC2A1: BP4, BP7
Genome-Nilou Lab RCV003445949 SCV004172891 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445948 SCV004172893 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445946 SCV004172894 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445947 SCV004172895 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445950 SCV004172896 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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