ClinVar Miner

Variants studied for long QT syndrome 5

Included ClinVar conditions (3):
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
9 5 82 21 25 1 1106 1201

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
KCNE1 9 5 82 21 25 1 1106 1201

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Roden Lab, Vanderbilt University Medical Center 0 0 0 0 0 0 1106 1106
Illumina Laboratory Services, Illumina 0 0 55 19 24 0 0 93
Fulgent Genetics, Fulgent Genetics 1 1 33 2 1 0 0 38
OMIM 4 0 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 1 0 0 1 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 2 0 0 0 0 4
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
3billion 0 1 0 0 0 0 0 1
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 1 0 0 0 0 0 1

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