ClinVar Miner

Variants in gene TRPM4

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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
7 6 1401 883 131 29 2258

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive familial heart block type IB 6 1 1004 643 70 1 1662
Cardiovascular phenotype 0 1 693 359 23 0 1076
not provided 0 3 231 106 86 0 407
not specified 0 0 18 72 45 0 123
Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 0 0 79 7 1 0 87
TRPM4-related disorder 0 1 10 22 5 0 38
Cardiomyopathy 0 0 2 4 1 0 7
Long QT syndrome 0 0 6 1 0 0 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Erythrokeratodermia variabilis et progressiva 6 2 0 1 0 3 0 6
Brugada syndrome 0 0 5 0 0 0 5
Hypertrophic cardiomyopathy 0 0 3 1 1 0 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Inborn genetic diseases 0 0 2 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Sudden cardiac death 0 0 2 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 1
Cardiac arrest 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Conduction disorder of the heart 0 0 0 1 0 0 1
Conduction system disorder 0 0 1 0 0 0 1
Exertional Heat Illness 0 1 0 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Family history of sudden cardiac death 0 0 0 1 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Myoepithelial tumor 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Restrictive cardiomyopathy; Cardiomyopathy 0 0 0 1 0 0 1
Sarcoma 0 0 0 0 0 1 1
Short QT syndrome 0 0 1 0 0 0 1
Sudden unexplained death 0 0 1 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 1 0 0 0 1
Ventricular tachycardia 0 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 934 626 66 0 1629
Ambry Genetics 0 1 694 359 23 0 1077
GeneDx 0 2 187 101 91 0 381
Illumina Laboratory Services, Illumina 0 0 79 17 8 0 104
Fulgent Genetics, Fulgent Genetics 0 0 75 7 1 0 83
Breakthrough Genomics, Breakthrough Genomics 0 0 11 27 41 0 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 14 24 36 0 74
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 3 26 13 0 42
PreventionGenetics, part of Exact Sciences 0 1 9 22 7 0 39
CeGaT Center for Human Genetics Tuebingen 0 1 10 20 5 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 10 10 15 0 35
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 28 28
Clinical Genetics, Academic Medical Center 0 0 3 2 19 0 24
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 3 14 0 17
AiLife Diagnostics, AiLife Diagnostics 0 0 16 0 0 0 16
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 3 8 3 0 14
Blueprint Genetics 0 0 8 1 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 0 0 0 8
Dept of Medical Biology, Uskudar University 0 0 5 1 0 0 6
OMIM 6 0 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 1 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 0 3
MVZ Martinsried, Medicover Genetics 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 3 0 0 0 3
Center for Human Genetics, University of Leuven 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 1 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 1 0 0 0 2
3billion 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Uniformed Services University, Consortium for Health and Military Performance 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1

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