ClinVar Miner

Variants in gene HNF1B

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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 total
152 73 119 31 47 383

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Renal cysts and diabetes syndrome 150 68 53 15 24 294
not provided 11 7 65 8 18 106
not specified 0 0 6 13 9 25
Monogenic diabetes 0 0 6 1 1 8
Maturity onset diabetes mellitus in young 0 0 5 0 2 7
Congenital anomalies of kidney and urinary tract 1 0 1 1 0 3
Type 2 diabetes mellitus 2 0 1 0 0 3
Hyperuricemic nephropathy, familial juvenile, 3 1 1 0 0 0 2
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 1 0 0 0 0 1
Chromophobe renal cell carcinoma 1 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 1
See cases 0 0 1 0 0 1
none provided 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 21 4 0 217
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 1 51 5 3 61
Illumina Clinical Services Laboratory,Illumina 0 0 25 10 22 57
GeneDx 5 3 4 12 13 37
Athena Diagnostics Inc 6 2 12 4 9 33
Integrated Genetics/Laboratory Corporation of America 0 10 5 4 3 22
OMIM 14 0 0 0 0 14
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 14
Broad Institute Rare Disease Group, Broad Institute 1 0 9 0 2 12
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 6 1 1 8
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 5 0 0 0 0 5
Gharavi Laboratory,Columbia University 0 1 3 1 0 5
PreventionGenetics, PreventionGenetics 0 0 0 2 2 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 1 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 1 0 4
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 0 1 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 1 0 0 0 0 1

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