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
142 86 161 167 41 27 592

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNQ1 125 66 84 22 20 24 311
CALM2 7 11 32 66 6 0 120
CALM3 4 1 25 76 10 0 116
KCNQ1, KCNQ1OT1 2 2 4 0 2 2 12
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
SCN5A 2 1 0 0 0 0 3
ANK2 0 0 2 0 0 0 2
KCNQ1, KCNQ1OT1, LOC106783508, LOC132089927, LOC132090832 1 1 0 0 0 0 2
SNTA1 0 0 1 0 1 0 2
CACNA1C 0 0 1 0 0 0 1
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: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 7 58 142 17 0 235
Illumina Laboratory Services, Illumina 1 2 59 22 19 0 103
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 38 11 5 0 3 0 57
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 5 2 12 0 1 0 20
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 4 5 2 1 0 0 12
MGZ Medical Genetics Center 8 3 0 0 0 0 11
Mendelics 1 0 3 2 3 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 2 1 0 0 0 8
Clinical Genetics Laboratory, Region Ostergotland 5 3 0 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
deCODE genetics, Amgen 3 3 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 1 1 0 0 0 5
Roden Lab, Vanderbilt University Medical Center 1 3 1 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 3 0 0 0 5
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
3billion 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 2 0 1 0 0 3
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
New York Genome Center 3 0 0 0 0 0 3
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
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 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
KardioGenetik, Herz- und Diabeteszentrum NRW 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
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
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
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
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 Pediatrics, Graduate School of Medicine, Nagasaki University 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 1

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