ClinVar Miner

Variants studied for Bartter syndrome

Included ClinVar conditions (12):
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 not provided total
107 48 249 80 75 4 529

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 17 12 97 23 18 0 162
BSND 14 5 51 29 13 0 97
CLCNKB, LOC106501713 27 7 23 19 25 0 94
KCNJ1 17 14 53 6 3 0 87
CLCNKA, LOC106501712 2 1 6 1 10 0 20
MAGED2 7 1 2 1 4 0 15
SLC12A3 6 4 5 0 0 0 15
LOC126862123, SLC12A1 4 2 5 0 0 0 10
CASR 4 0 1 0 0 4 9
CLCNKB 4 0 2 1 1 0 8
CTXN2, SLC12A1 2 2 2 0 0 0 6
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

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 2 123 19 31 0 176
Fulgent Genetics, Fulgent Genetics 20 8 73 50 5 0 156
OMIM 46 0 0 0 0 0 46
Genome-Nilou Lab 1 0 0 0 45 0 46
Natera, Inc. 2 2 19 19 2 0 44
Sydney Genome Diagnostics, Children's Hospital Westmead 8 4 10 0 0 0 22
Mendelics 12 1 2 1 2 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 6 0 0 0 0 16
Revvity Omics, Revvity Omics 3 2 10 0 0 0 15
3billion 3 3 6 0 0 0 12
Baylor Genetics 1 2 8 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 3 3 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 4 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 1 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 4 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 2 0 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 1 3 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 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
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 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
Reproductive Medicine Center, Renmin Hospital, Hubei University Of Medicine 1 0 0 0 0 0 1

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