ClinVar Miner

Variants studied for Long QT syndrome 1

Coded as:
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
153 101 179 197 41 27 661

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNQ1 136 77 89 23 20 24 334
CALM2 7 11 40 78 6 0 140
CALM3 5 1 30 93 10 0 139
KCNQ1, KCNQ1OT1 2 6 5 0 2 2 17
KCNH2 0 3 2 1 0 1 7
AKAP9 0 0 6 0 0 0 6
CAV3, OXTR 0 0 1 2 1 0 4
ANK2 0 0 2 0 0 0 2
KCNQ1, KCNQ1OT1, LOC106783508, LOC132089927, LOC132090832 1 1 0 0 0 0 2
SCN5A 1 1 0 0 0 0 2
SNTA1 0 0 1 0 1 0 2
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 1
CALM3, LOC130064760 0 0 0 0 1 0 1
DSP 1 0 0 0 0 0 1
LOC130065680, SNTA1 0 0 1 0 0 0 1
PKP2 0 1 0 0 0 0 1
RYR2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 7 71 171 17 0 278
Illumina Laboratory Services, Illumina 1 4 58 22 19 0 104
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 38 11 5 0 3 0 57
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 35 9 7 1 0 0 52
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 32 13 7 0 0 0 52
OMIM 28 0 0 0 0 0 28
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 26 26
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 4 2 11 0 1 0 18
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 17 0 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 7 6 1 1 0 0 15
MGZ Medical Genetics Center 8 3 0 0 0 0 11
Mendelics 1 0 3 2 3 0 9
Clinical Genetics Laboratory, Region Ostergotland 6 3 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 2 1 0 0 0 8
Baylor Genetics 3 4 0 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 4 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 3 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 1 1 0 0 0 6
deCODE genetics, Amgen 3 3 0 0 0 0 6
3billion 5 1 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 0 3 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
George Lab Vanderbilt University 0 5 0 0 0 0 5
New York Genome Center 3 1 1 0 0 0 5
Roden Lab, Vanderbilt University Medical Center 1 3 1 0 0 0 5
KardioGenetik, Herz- und Diabeteszentrum NRW 3 2 0 0 0 0 5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 2 0 1 0 0 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 2 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 0 0 0 3
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 1 1 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Biotechnology Research Center, Pasteur Institute of Iran 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Arcensus 0 2 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 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 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Akbari laboratory, Tarbiat Modares University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Swiss DNAlysis 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 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 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Pediatrics, Graduate School of Medicine, Nagasaki University 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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