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 total
51 33 170 22 42 297

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC12A3 51 32 166 22 42 292
SLC12A1 0 0 3 0 0 3
CASR 0 0 1 0 0 1
MMP2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 7 8 133 10 31 189
Natera, Inc. 18 5 24 13 24 84
Sydney Genome Diagnostics,Children's Hospital Westmead 8 4 9 0 0 21
OMIM 15 0 0 0 0 15
Athena Diagnostics Inc 0 0 0 0 10 10
Baylor Genetics 6 3 0 0 0 9
Fulgent Genetics,Fulgent Genetics 5 3 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 5 1 0 0 8
Mendelics 0 1 2 0 2 5
Molecular Biology Laboratory, Fundació Puigvert 3 2 0 0 0 5
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 4 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 4 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 2 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 3
Institute of Human Genetics,Cologne University 1 0 1 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Department of Endocrinology,Sir Run Run Shaw Hospital 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 1
Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Human Genetics Unit,University of Colombo 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 1

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