ClinVar Miner

Variants studied for Maturity-onset diabetes of the young type 2

Coded as:
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 not provided total
99 160 76 13 22 1 350

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GCK 99 160 74 12 22 1 347
CARS2 0 0 1 0 0 0 1
HNF4A 0 0 1 0 0 0 1
UCP2 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 83 8 6 0 0 114
Illumina Laboratory Services, Illumina 0 0 30 6 22 0 58
Geisinger Clinic, Geisinger Health System 40 10 0 0 0 0 50
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 1 16 0 0 0 20
National Newborn Screening Laboratory, Hospital Nacional de Niños 2 15 0 0 0 0 17
Genetic Services Laboratory, University of Chicago 8 8 0 0 0 0 16
ClinGen Monogenic Diabetes Variant Curation Expert Panel 5 7 0 0 0 0 12
3billion 3 6 2 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 3 5 3 0 0 0 11
OMIM 10 0 0 0 0 0 10
Translational Genomics Laboratory, University of Maryland School of Medicine 5 4 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 3 3 2 0 0 0 8
MGZ Medical Genetics Center 1 5 2 0 0 0 8
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 1 1 1 0 0 7
Mendelics 3 2 1 0 0 0 6
Department of Clinical Genetics, Medical University of Lodz 3 2 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 0 0 0 5
Baylor Genetics 1 2 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 3
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 1 1 1 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 0 0 0 0 3
Kangwon National University Hospital 1 2 0 0 0 0 3
MVZ Medizinische Genetik Mainz 1 1 1 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics Department, Catlab 0 1 0 0 0 0 1
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Stone Lab, Washington University School of Medicine 1 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1

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