ClinVar Miner

Variants studied for Jervell and Lange-Nielsen syndrome 1

Included ClinVar conditions (4):
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
40 25 116 26 21 7 230

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 37 24 110 24 19 7 216
KCNQ1, KCNQ1OT1 2 0 6 2 2 0 12
KCNE1 1 1 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 61 17 21 0 99
Fulgent Genetics, Fulgent Genetics 16 13 47 10 0 0 86
OMIM 8 0 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 0 0 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 1 2 0 0 0 7
New York Genome Center 0 1 5 0 0 0 6
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
GeneReviews 0 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 2 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
Institute of Rare Diseases, West China Hospital, Sichuan University 2 0 0 0 0 0 2
Health in Code S.L. 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 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
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
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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