ClinVar Miner

Variants studied for Gitelman syndrome

Included ClinVar conditions (2):
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
189 261 418 75 56 1 863

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC12A3 183 250 393 74 53 1 820
LOC126862361, SLC12A3 6 9 20 1 3 0 36
SLC12A1 0 0 2 0 0 0 2
CASR 0 0 1 0 0 0 1
IDUA 0 1 0 0 0 0 1
LOC126862123, SLC12A1 0 0 1 0 0 0 1
MMP2 0 1 0 0 0 0 1
SLC17A5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 74 103 172 27 1 0 377
Natera, Inc. 118 88 98 22 28 0 354
Illumina Laboratory Services, Illumina 7 8 125 9 31 0 180
Genome-Nilou Lab 27 17 16 22 39 0 121
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 38 25 13 4 0 0 80
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 34 15 0 0 0 0 49
Revvity Omics, Revvity 25 10 12 0 0 0 47
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 35 1 2 0 0 0 38
3billion 20 8 6 0 0 0 34
Juno Genomics, Hangzhou Juno Genomics, Inc 18 2 2 0 0 0 22
Sydney Genome Diagnostics, Children's Hospital Westmead 8 4 9 0 0 0 21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 3 4 0 0 0 15
OMIM 15 0 0 0 0 0 15
Clinical Genetics Unit, University of Padua 2 10 1 0 0 0 13
MVZ Medizinische Genetik Mainz 2 2 9 0 0 0 13
MGZ Medical Genetics Center 3 5 4 0 0 0 12
Nephrology, University of Crete, University General Hospital of Heraklion 7 2 2 0 1 0 12
Athena Diagnostics 0 0 0 0 10 0 10
Baylor Genetics 6 1 3 0 0 0 10
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 7 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 5 1 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 5 1 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 3 0 0 0 7
Mendelics 2 1 2 0 2 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 3 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 2 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 0 1 0 0 0 5
MVZ Martinsried, Medicover Genetics 1 4 0 0 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 3 2 0 0 0 0 5
Dasa 3 1 0 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 2 1 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 4 0 0 0 4
Variantyx, Inc. 2 2 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Endocrinology, Dongguan Hospital of Guangzhou University of Chinese Medicine 2 0 0 0 0 0 2
Department of Endocrinology, Sir Run Run Shaw Hospital 0 2 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 1
Department of Diabetes and Endocrinology, Second Affiliated Hospital of Dalian Medical University 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Vascular Genetix 1 0 0 0 0 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.