ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy 4

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 not provided total
178 135 194 39 41 2 512

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYBPC3 174 133 191 39 41 2 503
BRAF 1 0 0 0 0 0 1
DNAAF3, TNNI3 0 1 0 0 0 0 1
LDB3 0 0 1 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 0 1
MADD, MYBPC3 1 0 0 0 0 0 1
MYH7 1 0 0 0 0 0 1
RYR2 0 0 1 0 0 0 1
TCAP 0 0 1 0 0 0 1
TNNT2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 7 3 77 21 6 0 114
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 52 12 23 0 0 0 87
3billion 35 20 13 0 0 0 68
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 20 0 8 8 24 0 60
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 15 2 10 10 15 0 52
Mendelics 1 0 29 3 13 0 46
Genome Diagnostics Laboratory, University Medical Center Utrecht 13 1 3 9 18 0 44
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 10 7 17 0 1 0 35
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 29 1 0 0 0 30
OMIM 25 0 0 0 0 0 25
Baylor Genetics 15 5 2 0 0 0 22
Juno Genomics, Hangzhou Juno Genomics, Inc 7 9 2 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 12 2 3 0 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 4 9 0 0 0 16
Center of Genomic medicine, Geneva, University Hospital of Geneva 15 1 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 7 0 0 0 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 9 2 0 0 0 0 11
Clinical Genetics Laboratory, Region Ostergotland 6 5 0 0 0 0 11
Center for Medical Genetics Ghent, University of Ghent 5 4 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 4 5 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 5 2 1 0 0 0 8
Clinical Genomics Laboratory, Stanford Medicine 4 4 0 0 0 0 8
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 2 4 0 1 0 0 7
MGZ Medical Genetics Center 2 3 1 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 1 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 6
KardioGenetik, Herz- und Diabeteszentrum NRW 1 2 3 0 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 2 0 0 0 5
Phosphorus, Inc. 2 1 2 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Centogene AG - the Rare Disease Company 2 1 1 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 2 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 3 0 1 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 0 0 0 0 2
Arcensus 0 2 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Genetics Laboratory, Life Sciences Research Department, Aswan Heart Research Centre 1 0 0 0 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 0 1 0 0 0 1
Laboratory of Functional Genomics of Cardiovascular Diseases, Federal State Budgetary Institution National Medical Research Centre of Cardiology Named after Academician E.i.chazov. of the Ministry of Health of the Russian Federation 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Biotechnology Department, Cairo University 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1

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