ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
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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
64 48 80 18 24 1 4 222

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 58 47 63 13 17 1 3 185
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: 40
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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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 20 7 4 0 0 4 36
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 1 25 0 0 0 0 33
Geisinger Clinic, Geisinger Health System 21 5 0 0 0 0 0 26
OMIM 17 0 0 0 0 0 0 17
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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 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
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
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
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
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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