ClinVar Miner

Variants studied for Bartter disease type 2

Included ClinVar conditions (1):
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 total
18 38 93 7 4 148

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNJ1 18 38 93 7 4 148

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 3 27 48 2 1 81
Illumina Laboratory Services, Illumina 0 2 29 6 2 39
OMIM 10 0 0 0 0 10
Revvity Omics, Revvity 1 0 5 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 2 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 4
3billion, Medical Genetics 1 1 1 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.