ClinVar Miner

Variants studied for Bartter disease type 1

Included ClinVar conditions (1):
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 total
30 52 229 25 18 342

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC12A1 26 48 219 25 18 324
LOC126862123, SLC12A1 4 4 10 0 0 18

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 10 31 152 17 1 211
Illumina Laboratory Services, Illumina 0 1 68 11 16 96
3billion 3 3 5 0 0 11
OMIM 10 0 0 0 0 10
Baylor Genetics 2 1 5 0 0 8
Revvity Omics, Revvity 1 1 5 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 2 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 2 0 0 5
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 1 2 2 0 0 5
Mendelics 3 0 0 1 0 4
MVZ Medizinische Genetik Mainz 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 2
Center for Statistical Genetics, Columbia University 0 0 1 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 1
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People’s Hospital 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Pars Genome Lab 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 1

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