ClinVar Miner

Variants studied for Familial hypokalemia-hypomagnesemia

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
49 33 164 23 49 299

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
SLC12A3 49 32 164 23 49 298
MMP2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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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
Nilou-Genome Lab 0 0 2 1 19 22
Fulgent Genetics,Fulgent Genetics 10 6 0 0 0 16
OMIM 15 0 0 0 0 15
Athena Diagnostics Inc 0 0 0 0 10 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 5 1 0 0 8
Baylor Genetics 2 3 0 0 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 2
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 1 0 0 2
Genomics England Pilot Project,Genomics England 2 0 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
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 1
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1

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