ClinVar Miner

Variants studied for long QT syndrome 2

Included ClinVar conditions (6):
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 risk factor not provided total
106 66 230 30 18 1 2 426

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
KCNH2 99 66 227 29 17 1 2 414
KCNQ1 4 0 0 0 0 0 0 4
SCN5A 1 0 1 0 0 0 0 2
AKAP9 0 0 1 0 0 0 0 1
ALG10 0 0 0 0 1 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 0 1
CAV3, OXTR 1 0 0 0 0 0 0 1
KCNE1 1 0 0 0 0 0 0 1
SNTA1 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Fulgent Genetics, Fulgent Genetics 3 2 113 14 1 0 0 133
Illumina Laboratory Services, Illumina 2 2 67 11 11 0 0 93
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 32 10 8 0 0 0 0 50
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 4 18 0 0 0 0 41
OMIM 29 0 0 0 1 0 0 30
Blueprint Genetics 9 7 3 0 0 1 0 20
Mendelics 0 0 11 0 5 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 8 1 0 0 0 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 3 3 0 0 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 2 1 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 3 3 1 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 2 0 0 0 0 7
New York Genome Center 0 0 6 0 0 0 0 6
KardioGenetik, Herz- und Diabeteszentrum NRW 3 2 1 0 0 0 0 6
Baylor Genetics 4 0 1 0 0 0 0 5
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 4 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 5
CSER _CC_NCGL, University of Washington 0 0 4 0 0 0 0 4
Center for Human Genetics, University of Leuven 2 1 0 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 0 3
deCODE genetics, Amgen 1 2 0 0 0 0 0 3
Roden Lab, Vanderbilt University Medical Center 0 3 0 0 0 0 0 3
MVZ Medizinische Genetik Mainz 1 2 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 0 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 1 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 0 2
Research Institute, Imperial College London Diabetes Centre 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
McDonald Lab; Albert Einstein College of Medicine 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 1
Cardiogenomic Section, Hospital Ramos Mejia 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1

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