ClinVar Miner

Variants studied for ventricular tachycardia, familial

Included ClinVar conditions (16):
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
189 204 4072 3314 332 19 7588

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 84 124 3069 2409 218 11 5489
TRDN 33 27 458 394 49 1 940
CASQ2 44 31 225 248 33 4 544
LOC126806068, RYR2 10 12 181 122 7 1 306
LOC126806067, RYR2 0 0 89 61 6 0 140
CALM1 3 2 11 42 6 2 62
CASQ2, VANGL1 0 0 0 21 8 0 24
CALM1, LOC126862021 5 1 3 13 0 0 22
TECRL 6 5 4 0 0 0 14
CALM3 4 0 2 0 4 0 10
ACTN2, MT1HL1, MTR, RYR2 0 0 6 0 0 0 6
CALM1, LOC130056272 0 0 0 3 0 0 3
MYBPC3 0 0 3 0 0 0 3
ANK2 0 1 1 0 0 0 2
LOC126806066, RYR2 0 0 2 0 0 0 2
SCN5A 0 0 2 0 0 0 2
AKAP9 0 0 0 1 0 0 1
ATP1A1, CASQ2, LINC01649, MAB21L3, NHLH2, SLC22A15 0 0 1 0 0 0 1
CACNA1C 0 0 1 0 0 0 1
CALM1, LOC112272566 0 0 0 0 1 0 1
DMPK 0 0 1 0 0 0 1
DSG2 0 0 1 0 0 0 1
DSP 0 0 1 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 1 0 0 0 0 1
KCNH2 0 0 1 0 0 0 1
KLHL8 0 0 1 0 0 0 1
LAMA4 0 0 1 0 0 0 1
LMNA 0 0 1 0 0 0 1
LOC101927055, TTN 0 0 1 0 0 0 1
LOC126806067, LOC126806068, MIR4428, RYR2 0 0 1 0 0 0 1
LOC126806067, LOC126806068, RYR2 0 0 1 0 0 0 1
LOC129389631, LOC129389632, LOC129389633, TRDN 0 0 1 0 0 0 1
LOC129389631, TRDN 0 0 1 0 0 0 1
SCN4B 0 0 1 0 0 0 1
TRPM4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 155 100 2900 2990 265 0 6410
All of Us Research Program, National Institutes of Health 0 0 1413 734 86 0 2233
Illumina Laboratory Services, Illumina 0 0 297 129 104 0 421
Fulgent Genetics, Fulgent Genetics 5 10 273 29 3 0 320
Genome-Nilou Lab 1 16 87 35 58 0 197
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 11 22 2 0 0 52
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 15 18 0 0 0 36
Blueprint Genetics 1 13 15 0 0 0 29
OMIM 28 0 0 0 0 0 28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 9 6 13 0 28
Baylor Genetics 3 5 14 0 0 0 22
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 18 0 0 0 19
Revvity Omics, Revvity 1 8 7 0 0 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 2 10 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 10 0 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 11 0 11
MGZ Medical Genetics Center 1 0 9 0 0 0 10
GeneReviews 0 0 0 0 0 10 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 1 3 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 7 0 0 0 9
New York Genome Center 0 0 9 0 0 0 9
Mendelics 0 1 2 1 4 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 4 2 1 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 2 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 1 5 0 0 0 7
Cohesion Phenomics 0 0 0 7 0 0 7
Lildballe Lab, Aarhus University Hospital 0 5 2 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 6 0 0 0 6
MVZ Medizinische Genetik Mainz 0 0 6 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 4 0 0 0 0 5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 1 2 0 1 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 5 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Center for Medical Genetics Ghent, University of Ghent 1 3 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Center for Human Genetics, University of Leuven 0 3 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 3 0 0 0 4
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 2 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Genetics and Genomics Program, Sidra Medicine 1 0 2 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 2 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
Nyegaard lab; Aarhus University 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 1 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular and Cytogenetics Laboratory, Americain University of Beirut Medical Center 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Razi Pathobiology & Medical Genetics 0 0 0 0 1 0 1

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