ClinVar Miner

Variants studied for long QT syndrome 6

Included ClinVar conditions (2):
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 total
2 2 73 40 5 1 110

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
KCNE2, LOC105372791 2 2 69 40 5 1 106
KCNE1, KCNE2, SMIM11 0 0 2 0 0 0 2
CLIC6, KCNE1, KCNE2, RCAN1, RUNX1, SMIM11 0 0 1 0 0 0 1
KCNE2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 56 38 3 0 97
Illumina Laboratory Services, Illumina 0 0 11 3 3 0 17
Fulgent Genetics, Fulgent Genetics 0 0 15 1 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Mendelics 0 0 0 1 1 0 2
New York Genome Center 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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