ClinVar Miner

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

Included ClinVar conditions (6):
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 likely risk allele not provided total
96 155 82 22 23 1 2 355

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
GCK 96 155 81 21 23 1 2 353
HNF4A 0 0 1 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 79 9 7 0 0 0 111
Illumina Laboratory Services, Illumina 0 0 30 6 22 0 0 58
Geisinger Clinic, Geisinger Health System 40 10 0 0 0 0 0 50
Fulgent Genetics, Fulgent Genetics 8 4 12 10 1 0 0 35
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 1 16 0 0 0 0 20
National Newborn Screening Laboratory, Hospital Nacional de Niños 2 15 0 0 0 0 0 17
Genetic Services Laboratory, University of Chicago 8 8 0 0 0 0 0 16
ClinGen Monogenic Diabetes Variant Curation Expert Panel 5 7 0 0 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 3 5 3 0 0 0 0 11
OMIM 10 0 0 0 0 0 0 10
Translational Genomics Laboratory, University of Maryland School of Medicine 5 4 0 0 0 0 0 9
MGZ Medical Genetics Center 1 5 2 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 3 2 0 0 0 0 8
3billion 1 5 2 0 0 0 0 8
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 1 1 1 0 0 0 7
Mendelics 3 2 1 0 0 0 0 6
New York Genome Center 0 1 5 0 0 0 0 6
Baylor Genetics 1 2 1 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 0 0 0 0 0 3
Kangwon National University Hospital 1 2 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 0 3
MVZ Medizinische Genetik Mainz 1 1 1 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 1
Stone Lab, Washington University School of Medicine 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1

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