ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy 1

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
83 148 493 239 47 2 961

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYLK2 0 0 263 207 27 0 490
MYH7 54 95 132 22 10 2 283
LOC126861898, MYH7 9 28 13 2 1 0 46
MYBPC3 11 3 13 1 0 0 28
LOC126861897, MHRT, MYH7 2 4 14 1 3 0 22
MHRT, MYH7 0 4 11 3 1 0 16
MYH6 1 0 7 0 0 0 8
MYH7B 3 5 0 0 0 0 8
LOC126861897, MYH7 0 1 4 0 0 0 5
TNNI3 0 1 2 0 2 0 5
TPM1 0 2 2 0 1 0 5
CSRP3 0 0 4 0 0 0 4
TNNT2 0 1 3 0 0 0 4
ACTN2 0 0 3 0 0 0 3
CAV3, OXTR 1 1 1 0 0 0 3
NEXN 0 0 3 0 0 0 3
TCAP 0 0 2 0 1 0 3
ANKRD1 0 0 2 0 0 0 2
GLA, RPL36A-HNRNPH2 0 0 2 0 0 0 2
JPH2 0 0 2 0 0 0 2
RAF1 1 0 1 0 0 0 2
CACNA1C 0 1 0 0 0 0 1
LAMA4 0 0 1 0 0 0 1
LDB3 0 0 1 0 0 0 1
LMNA 1 0 0 0 0 0 1
LOC114827850, MYL2 0 0 0 1 0 0 1
LOC114827851, MYH6 0 0 1 0 0 0 1
LOC126861896, MYH6 0 0 1 0 0 0 1
LOC126861897, MHRT, MIR208B, MYH7 0 1 0 0 0 0 1
LOC129935184, TTN 0 0 0 1 0 0 1
LZTR1 0 1 0 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 1
MYL2 0 0 1 0 0 0 1
MYL3 0 0 1 0 0 0 1
MYPN 0 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 0 1
SGCD 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 252 201 26 0 479
Illumina Laboratory Services, Illumina 1 4 88 26 10 0 129
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 30 15 38 6 2 0 91
3billion 22 20 11 0 0 0 53
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 17 19 3 0 0 52
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 5 35 0 0 0 43
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 38 1 0 0 0 39
OMIM 30 0 0 0 0 0 30
Mendelics 0 6 6 2 6 0 20
Baylor Genetics 7 3 6 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 8 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 8 0 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 5 4 3 0 0 0 12
Phosphorus, Inc. 5 3 3 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 1 4 5 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 8 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 0 8 0 0 0 0 8
Institute of Immunology and Genetics Kaiserslautern 4 1 3 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 2 0 0 0 7
Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3 4 0 0 0 0 7
MGZ Medical Genetics Center 1 3 2 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 2 4 0 0 0 6
Clinical Genetics Laboratory, Region Ostergotland 2 2 1 0 0 0 5
Genomics England Pilot Project, Genomics England 0 5 0 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1 2 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 3 0 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 1 1 2 0 0 0 4
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 4 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 0 3
deCODE genetics, Amgen 0 3 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 2 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 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 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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