ClinVar Miner

Variants studied for Maturity-onset diabetes of the young type 3

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 likely risk allele not provided total
65 53 77 15 31 1 4 227

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 likely risk allele not provided total
HNF1A 59 52 60 10 24 1 3 190
C12orf43, HNF1A 3 1 17 5 7 0 1 34
GCK 2 0 0 0 0 0 0 2
HNF4A 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Illumina Laboratory Services, Illumina 1 0 38 13 18 0 0 70
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 1 25 0 0 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 20 3 0 0 0 4 28
Geisinger Clinic, Geisinger Health System 21 5 0 0 0 0 0 26
OMIM 17 0 0 0 0 0 0 17
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 16 0 0 16
Mendelics 1 0 3 2 3 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 0 9
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 0 0 0 0 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 0 0 0 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 3 2 0 0 0 0 0 5
Baylor Genetics 3 1 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 0 0 0 0 4
MGZ Medical Genetics Center 2 0 1 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 0 3
Institute of Experimental Endocrinology, Slovak Academy of Sciences 0 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 3 0 0 0 0 0 3
National Newborn Screening Laboratory, Hospital Nacional de Niños 1 2 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 0 3
3billion 0 0 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 1 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 0 2
Translational Genomics Laboratory, University of Maryland School of Medicine 2 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 0 2
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 1 1 0 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 0 0 1 0 2
Genetics Department, Catlab 1 0 1 0 0 0 0 2
CGC Genetics, Unilabs 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 1
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 1
Stone Lab, Washington University School of Medicine 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 0 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 0 1
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 0 1

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