ClinVar Miner

Variants in gene CEL

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
4 10 212 131 46 364

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 2 36 112 36 173
Maturity-onset diabetes of the young type 8 4 7 118 18 5 145
Inborn genetic diseases 0 0 66 8 0 74
not specified 0 0 11 10 12 31
Monogenic diabetes 0 0 2 1 4 7
CEL-related disorder 0 1 4 0 0 5
See cases 0 0 0 2 2 4
Maturity onset diabetes mellitus in young 1 0 1 0 0 2
Transitory neonatal diabetes mellitus 0 0 0 0 1 1
Type 2 diabetes mellitus 0 0 1 0 0 1
Variant of unknown significance 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 1 85 16 2 104
GeneDx 0 0 26 46 15 87
CeGaT Center for Human Genetics Tuebingen 0 0 4 62 20 86
Ambry Genetics 0 0 66 8 0 74
Breakthrough Genomics, Breakthrough Genomics 0 1 5 28 15 49
Genetic Services Laboratory, University of Chicago 0 0 13 8 6 27
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 12 0 0 12
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 4 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 3 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 3 8
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 2 1 4 7
New York Genome Center 0 0 7 0 0 7
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 1 0 5 0 0 6
PreventionGenetics, part of Exact Sciences 0 1 4 0 0 5
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 1 4 5
ISCA Site 6 0 0 0 2 2 4
AiLife Diagnostics, AiLife Diagnostics 0 0 4 0 0 4
OMIM 2 0 1 0 0 3
Revvity Omics, Revvity 0 1 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 3
Baylor Genetics 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 1 1

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.