ClinVar Miner

Variants studied for Gitelman syndrome

Included ClinVar conditions (2):
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
117 112 211 76 56 1 489

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC12A3 113 110 193 75 53 1 463
LOC126862361, SLC12A3 4 1 13 1 3 0 20
CASR 0 0 1 0 0 0 1
CTXN2, SLC12A1 0 0 1 0 0 0 1
LOC126862123, SLC12A1 0 0 1 0 0 0 1
MMP2 0 1 0 0 0 0 1
SLC12A1 0 0 1 0 0 0 1
SLC17A5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 7 8 134 10 31 0 190
Natera, Inc. 49 14 32 22 28 0 145
Fulgent Genetics, Fulgent Genetics 41 32 26 27 1 0 127
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
Revvity Omics, Revvity 15 9 8 0 0 0 32
Sydney Genome Diagnostics, Children's Hospital Westmead 8 4 9 0 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 7 0 0 0 0 18
OMIM 15 0 0 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 0 0 0 0 0 13
MGZ Medical Genetics Center 3 5 4 0 0 0 12
3billion 6 3 3 0 0 0 12
Baylor Genetics 6 1 3 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 10 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 5 1 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 1 2 0 0 0 8
Mendelics 1 1 2 0 2 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 4 1 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 2 0 5
Molecular Biology Laboratory, Fundació Puigvert 3 2 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 4 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
DASA 3 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 2 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Department of Endocrinology, Sir Run Run Shaw Hospital 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
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Vascular Genetix 1 0 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 1

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