ClinVar Miner

Variants in gene SLC12A3

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
121 61 181 179 57 524

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 102 43 18 165 25 337
Familial hypokalemia-hypomagnesemia 48 29 161 22 42 283
not specified 0 0 5 3 20 28
Familial hypokalemia-hypomagnesemia; Bartter syndrome 8 4 5 0 0 17
Muscle weakness; Hypokalemia; Hypermagnesemia; Myalgia 1 0 1 0 0 2
Inborn genetic diseases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 92 28 0 162 25 307
Illumina Clinical Services Laboratory,Illumina 7 8 133 10 31 189
Natera, Inc. 18 5 24 13 24 84
Athena Diagnostics Inc 18 4 11 3 18 54
PreventionGenetics, PreventionGenetics 0 0 0 1 16 17
Sydney Genome Diagnostics,Children's Hospital Westmead 8 4 5 0 0 17
OMIM 15 0 0 0 0 15
GeneDx 7 5 2 0 0 14
Gharavi Laboratory,Columbia University 3 8 1 0 0 12
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
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 7 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 1 2 5
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
CeGaT Praxis fuer Humangenetik Tuebingen 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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 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
Ambry Genetics 1 0 0 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 Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 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

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