ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)

gnomAD frequency: 0.00233  dbSNP: rs149804567
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000176324 SCV000151547 likely benign not specified 2014-12-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000176324 SCV000227958 likely benign not specified 2015-02-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176324 SCV000313667 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000427452 SCV000511254 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000427452 SCV000523049 likely benign not provided 2022-06-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV001084423 SCV000563636 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312161 SCV000846364 likely benign Inborn genetic diseases 2019-02-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Mendelics RCV000988291 SCV001137957 likely benign Developmental and epileptic encephalopathy, 14 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000427452 SCV001144342 benign not provided 2019-05-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000427452 SCV002546125 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KCNT1: BS1
Genome-Nilou Lab RCV000988291 SCV002555499 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269830 SCV002555500 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000427452 SCV001930537 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000176324 SCV001954776 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.