ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.679+4C>T

dbSNP: rs139492241
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186662 SCV000171698 benign not specified 2013-07-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000723793 SCV000203590 uncertain significance not provided 2015-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087312 SCV000649808 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312940 SCV000848845 benign Inborn genetic diseases 2019-03-21 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 RCV000723793 SCV002821391 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SLC2A1: BP4
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000723793 SCV001930092 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000723793 SCV001972383 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004551226 SCV004731225 likely benign SLC2A1-related disorder 2019-05-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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