ClinVar Miner

Variants studied for hypertrophic cardiomyopathy 4

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
168 132 270 55 42 7 594

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 164 130 267 55 42 7 585
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: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 28 8 116 18 3 0 173
Illumina Laboratory Services, Illumina 6 2 79 21 6 0 114
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 52 12 23 0 0 0 87
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
3billion 25 19 4 0 0 0 48
Mendelics 1 0 29 3 13 0 46
Genome Diagnostics Laboratory, University Medical Center Utrecht 13 1 3 9 18 0 44
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 11 3 0 0 0 21
Center of Genomic medicine, Geneva, University Hospital of Geneva 15 1 0 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 10 1 3 0 0 0 14
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 4 5 0 0 0 12
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 7 4 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
New York Genome Center 5 2 1 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 4 0 0 0 6
KardioGenetik, Herz- und Diabeteszentrum NRW 1 2 3 0 0 0 6
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
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 1 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 2 2 0 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 2 2 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 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
Institute of Human Genetics, University of Wuerzburg 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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
Molecular Genetics, Royal Melbourne Hospital 1 0 1 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
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 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
Donald Williams Parsons Laboratory, Baylor College of Medicine 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
Institute of Human Genetics, Heidelberg University 1 0 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
Center of Genetics and Reproductive Medicine "Genetico" 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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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