ClinVar Miner

Variants studied for Bartter disease type 3

Included ClinVar conditions (3):
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
37 37 125 22 26 1 238

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CLCNKB, LOC106501713 31 35 111 21 25 0 213
CLCNKB 5 2 12 1 1 0 21
CASR 0 0 0 0 0 1 1
CLCNKA 0 0 1 0 0 0 1
CLCNKB, FAM131C 1 0 0 0 0 0 1
SLC12A1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 18 22 108 22 1 0 171
Genome-Nilou Lab 0 0 0 0 24 0 24
Mendelics 8 1 1 0 1 0 11
3billion 5 0 5 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 8
OMIM 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 0 1 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 2 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 1 2 0 0 0 0 3
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 1 0 2 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 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 Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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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