ClinVar Miner

Variants studied for long QT syndrome 3

Included ClinVar conditions (13):
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
39 45 321 50 34 2 468

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 36 41 285 44 30 2 418
LOC110121269, SCN5A 2 4 36 6 4 0 49
KCNE2, LOC105372791 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 12 13 173 10 5 0 213
Illumina Laboratory Services, Illumina 0 0 112 38 30 0 180
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 7 3 16 0 0 0 26
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 8 1 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 15 0 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 2 7 3 0 0 0 12
OMIM 11 0 0 0 0 0 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 6 2 0 0 0 11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 2 2 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 1 0 2 0 6
New York Genome Center 1 1 4 0 0 0 6
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 2 0 0 0 4
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 4 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.