ClinVar Miner

Variants studied for Familial hypokalemia-hypomagnesemia

Coded as:
Minimum submission review status: Collection method:
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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
32 20 77 19 19 153

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 32 19 77 19 19 152
MMP2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 7 8 71 19 9 114
OMIM 15 0 0 0 0 15
Athena Diagnostics Inc 0 0 0 0 10 10
Fulgent Genetics,Fulgent Genetics 5 3 0 0 0 8
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 4 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 3 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 2 0 0 0 2
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
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
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
Molecular Diagnostics Laboratory,M Health: 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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