ClinVar Miner

Variants studied for Jervell and Lange-Nielsen syndrome

Included ClinVar conditions (9):
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
50 32 214 53 50 7 394

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNQ1 40 30 124 28 19 7 240
KCNE1 8 2 83 19 27 0 135
KCNQ1, KCNQ1OT1 2 0 7 6 4 0 19

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 138 43 49 0 230
Fulgent Genetics, Fulgent Genetics 17 14 80 12 1 0 124
OMIM 11 0 0 0 0 0 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 1 3 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 6 0 0 0 0 7
New York Genome Center 0 1 6 0 0 0 7
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 4 4
Biotechnology Research Center, Pasteur Institute of Iran 4 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
3billion, Medical Genetics 2 0 0 0 0 0 2
Dept of Medical Biology, Uskudar University 2 0 0 0 0 0 2
Institute of Rare Diseases, West China Hospital, Sichuan University 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Division of Laboratory Medicine and Clinical Genetics, Chiba University Hospital 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1

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