ClinVar Miner

Variants in gene SLC12A3

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
307 322 604 885 143 11 1984

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 246 120 169 857 134 0 1454
Familial hypokalemia-hypomagnesemia 181 248 388 74 53 1 813
Inborn genetic diseases 9 4 120 9 1 0 143
not specified 0 0 58 12 28 0 95
SLC12A3-related disorder 10 4 10 23 1 0 48
Renal tubulopathies 15 8 1 0 0 0 24
Familial hypokalemia-hypomagnesemia; Bartter syndrome 6 4 5 0 0 0 15
Thymoma 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Muscle weakness; Hypokalemia; Hypermagnesemia; Myalgia 1 0 1 0 0 0 2
Renal tubular acidosis 0 2 0 0 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Congenital portosystemic shunt 0 0 1 0 0 0 1
Familial aortopathy 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Hypokalemia 0 1 0 0 0 0 1
Inherited renal tubular disease 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 242 89 107 800 50 0 1288
Fulgent Genetics, Fulgent Genetics 69 98 166 26 1 0 360
Natera, Inc. 113 83 93 22 26 0 337
GeneDx 36 19 47 41 94 0 237
Illumina Laboratory Services, Illumina 7 8 117 9 28 0 169
Ambry Genetics 9 4 120 9 1 0 143
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 33 14 56 7 7 0 117
Genome-Nilou Lab 25 16 15 22 36 0 114
Breakthrough Genomics, Breakthrough Genomics 0 0 6 19 54 0 79
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 36 25 11 4 0 0 76
PreventionGenetics, part of Exact Sciences 10 4 10 24 17 0 65
Athena Diagnostics 20 5 11 4 16 0 56
Revvity Omics, Revvity 24 9 12 0 0 0 45
Mayo Clinic Laboratories, Mayo Clinic 1 1 8 9 15 0 34
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 31 1 2 0 0 0 34
3billion 20 8 5 0 0 0 33
CeGaT Center for Human Genetics Tuebingen 10 1 3 17 2 0 33
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 7 3 1 3 16 0 30
Genome Diagnostics Laboratory, University Medical Center Utrecht 7 1 0 2 17 0 27
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 15 8 1 0 0 0 24
Juno Genomics, Hangzhou Juno Genomics, Inc 18 2 2 0 0 0 22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 3 4 0 0 0 15
OMIM 15 0 0 0 0 0 15
Sydney Genome Diagnostics, Children's Hospital Westmead 6 4 5 0 0 0 15
Clinical Genetics Unit, University of Padua 2 10 1 0 0 0 13
Gharavi Laboratory, Columbia University 3 8 1 0 0 0 12
MGZ Medical Genetics Center 3 5 4 0 0 0 12
MVZ Medizinische Genetik Mainz 2 1 9 0 0 0 12
Nephrology, University of Crete, University General Hospital of Heraklion 6 2 2 0 1 0 11
Baylor Genetics 6 1 3 0 0 0 10
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 10 10
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 7 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 5 1 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 5 1 0 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 3 3 1 0 0 0 7
Dasa 6 1 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 3 0 0 0 7
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 7 0 0 0 7
Mendelics 2 1 2 0 2 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 1 2 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 1 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 3 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 1 1 2 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 2 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 0 1 0 0 0 5
MVZ Martinsried, Medicover Genetics 1 4 0 0 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 3 2 0 0 0 0 5
Dubai Health Genomic Medicine Center, Dubai Health 2 1 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 4 0 0 0 4
Variantyx, Inc. 2 2 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 2 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Endocrinology, Dongguan Hospital of Guangzhou University of Chinese Medicine 2 0 0 0 0 0 2
Department of Endocrinology, Sir Run Run Shaw Hospital 0 2 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 1 0 0 0 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
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 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
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 1
Department of Diabetes and Endocrinology, Second Affiliated Hospital of Dalian Medical University 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 0 1 0 0 0 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Vascular Genetix 1 0 0 0 0 0 1

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