ClinVar Miner

Variants studied for maturity-onset diabetes of the young type 1

Included ClinVar conditions (4):
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
31 45 138 35 42 2 272

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 not provided total
HNF4A 30 45 137 35 42 2 270
GCK 1 0 0 0 0 0 1
HNF1A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 57 17 40 0 114
Fulgent Genetics, Fulgent Genetics 4 7 62 14 1 0 88
Geisinger Clinic, Geisinger Health System 12 9 0 0 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 8 2 7 1 2 20
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 7 0 0 0 8
OMIM 6 0 0 0 0 0 6
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 6
Translational Genomics Laboratory, University of Maryland School of Medicine 3 1 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
MVZ Medizinische Genetik Mainz 0 2 2 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 0 1 1 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 0 1 0 0 0 0 1

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