ClinVar Miner

Variants in gene HNF1B

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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 uncertain risk allele total
156 90 220 157 77 19 17 569

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
not provided 31 11 144 113 46 0 0 315
Renal cysts and diabetes syndrome 139 66 58 12 23 0 0 278
Maturity onset diabetes mellitus in young 16 13 39 56 24 19 17 173
not specified 0 0 17 14 15 0 0 41
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma 9 2 8 8 0 0 0 27
HNF1B-related condition 2 4 10 0 0 0 0 16
Monogenic diabetes 0 0 6 1 1 0 0 8
Type 2 diabetes mellitus 4 0 4 0 0 0 0 8
Nonpapillary renal cell carcinoma 0 0 0 2 3 0 0 5
Inborn genetic diseases 0 1 3 0 0 0 0 4
Autosomal dominant polycystic liver disease 0 0 2 1 0 0 0 3
Congenital anomaly of kidney and urinary tract 1 1 1 1 0 0 0 3
Hyperechogenic kidneys 2 1 0 0 0 0 0 3
Hyperuricemic nephropathy, familial juvenile type 3 1 1 0 0 0 0 0 2
Ovarian cancer 0 1 0 0 1 0 0 2
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus 0 0 2 0 0 0 0 2
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 1 0 0 0 0 0 0 1
Chromophobe renal cell carcinoma 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
Invitae 24 2 71 92 16 0 0 205
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 122 46 17 2 0 0 0 187
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 13 12 22 44 23 19 17 150
GeneDx 11 5 27 21 31 0 0 95
Eurofins Ntd Llc (ga) 1 1 47 4 2 0 0 55
Illumina Laboratory Services, Illumina 0 0 25 9 21 0 0 55
Athena Diagnostics Inc 5 1 17 4 8 0 0 35
Ambry Genetics 2 1 14 13 2 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 9 7 7 5 0 0 29
Fulgent Genetics, Fulgent Genetics 9 2 8 8 0 0 0 27
Preventiongenetics, part of Exact Sciences 2 4 10 1 1 0 0 18
OMIM 14 0 0 0 0 0 0 14
Broad Institute Rare Disease Group, Broad Institute 2 3 9 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 0 1 7 2 3 0 0 13
Molecular Biology Laboratory, Fundació Puigvert 8 5 0 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 2 0 0 0 0 12
CeGaT Center for Human Genetics Tuebingen 2 0 2 4 2 0 0 10
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 6 1 1 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 4 2 0 0 7
3billion 2 0 5 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 4 0 0 0 5
New York Genome Center 1 0 4 0 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 3 0 0 5
Revvity Omics, Revvity Omics 0 1 3 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 1 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 1 3 0 0 0 0 0 4
Gharavi Laboratory, Columbia University 0 1 2 1 0 0 0 4
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 0 0 2 1 0 0 0 3
Mendelics 0 0 2 0 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 3
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 2 1 0 0 0 0 0 3
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 0 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Molecular Genetics, Madras Diabetes Research Foundation 0 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 1 0 0 0 0 2
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 0 1
Blueprint Genetics 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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 0 1

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