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
73 119 420 218 47 2 838

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYLK2 0 0 227 186 27 0 433
MYH7 45 74 101 22 10 2 232
LOC126861898, MYH7 8 22 9 2 1 0 36
MYBPC3 12 4 13 1 0 0 30
LOC126861897, MHRT, MYH7 2 3 13 1 3 0 19
MHRT, MYH7 0 3 9 3 1 0 13
MYH6 1 0 7 0 0 0 8
MYH7B 3 5 0 0 0 0 8
CSRP3 0 0 5 0 0 0 5
TNNI3 0 1 2 0 2 0 5
TNNT2 0 1 4 0 0 0 5
TPM1 0 2 2 0 1 0 5
LOC126861897, MYH7 0 1 3 0 0 0 4
ACTN2 0 0 3 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
CAV3, OXTR 0 1 1 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
LOC129935184, TTN 0 0 0 1 0 0 1
LOC129999660, PRKAG2 0 0 1 0 0 0 1
LZTR1 0 1 0 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
PRKAG2 0 0 1 0 0 0 1
SGCD 0 0 0 1 0 0 1
TTR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 219 180 26 0 425
Illumina Laboratory Services, Illumina 0 2 89 26 10 0 127
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 21 4 29 5 2 0 61
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 7 7 39 0 0 0 53
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 38 1 0 0 0 39
3billion 16 17 4 0 0 0 37
OMIM 30 0 0 0 0 0 30
Mendelics 0 6 6 2 6 0 20
Baylor Genetics 7 3 5 0 0 0 15
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
Phosphorus, Inc. 5 3 3 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 1 4 5 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 2 0 0 7
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
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 5 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
Clinical Genetics Laboratory, Region Ostergotland 2 2 0 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
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 0 3
deCODE genetics, Amgen 0 3 0 0 0 0 3
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
Institute of Human Genetics, University of Wuerzburg 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 2 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Clinical Genetics Laboratory, Skane University Hospital Lund 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1

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