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
43 23 212 53 50 7 377

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 35 21 122 28 19 7 225
KCNE1 7 2 83 19 27 0 134
KCNQ1, KCNQ1OT1 1 0 7 6 4 0 18

Submitter and significance breakdown #

Total submitters: 25
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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 12 80 12 1 0 122
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
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
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
3billion 2 0 0 0 0 0 2
Dept of Medical Biology, Uskudar 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
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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