ClinVar Miner

Variants studied for Bartter syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
133 177 553 86 75 5 971

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC12A1 26 53 222 25 18 0 332
CLCNKB, LOC106501713 33 36 112 21 25 0 217
KCNJ1 22 49 96 7 4 0 162
BSND 17 23 74 30 12 0 137
CLCNKA, LOC106501712 2 3 11 1 10 0 27
CLCNKB 8 2 12 1 1 0 24
MAGED2 8 3 6 1 4 0 22
LOC126862123, SLC12A1 4 4 11 0 0 0 18
SLC12A3 6 4 5 0 0 0 15
CASR 4 0 1 0 0 5 10
CLCNKA 0 0 2 0 0 0 2
LOC126862361, SLC12A3 2 0 0 0 0 0 2
BSND, LOC129930596 0 0 0 0 1 0 1
CLCNKB, FAM131C 1 0 0 0 0 0 1
COL12A1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 35 81 323 56 5 0 500
Illumina Laboratory Services, Illumina 1 2 118 19 30 0 170
Natera, Inc. 7 18 41 20 2 0 88
Genome-Nilou Lab 1 0 0 0 45 0 46
OMIM 46 0 0 0 0 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 15 0 0 0 0 35
3billion 10 4 12 0 0 0 26
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 6 10 10 0 0 0 26
Sydney Genome Diagnostics, Children's Hospital Westmead 8 4 10 0 0 0 22
Revvity Omics, Revvity 3 3 13 0 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 1 7 10 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 10 6 0 0 0 18
Mendelics 12 1 2 1 2 0 18
Neuberg Centre For Genomic Medicine, NCGM 5 4 6 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 6 3 0 0 0 13
Baylor Genetics 2 2 8 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 1 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 4 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 1 0 0 0 6
MVZ Medizinische Genetik Mainz 0 1 5 0 0 0 6
Variantyx, Inc. 2 4 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 2 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 1 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 1 3 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Wonkam Laboratory, Johns Hopkins University 1 1 1 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 1 1 0 0 0 2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 2 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 1 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
Laboratory of Molecular Genetics, CHU Rennes 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics and Genomics Laboratory, Noor Shahriyar Hospital 1 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 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People’s Hospital 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Reproductive Medicine Center, Renmin Hospital, Hubei University Of Medicine 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1

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