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:

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
42 27 118 26 21 7 234

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 not provided total
KCNQ1 39 26 111 24 19 7 219
KCNQ1, KCNQ1OT1 2 0 6 2 2 0 12
KCNE1 1 1 0 0 0 0 2
SMARCB1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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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
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 0 0 0 0 8
OMIM 8 0 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
Biotechnology Research Center, Pasteur Institute of Iran 4 0 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 4 4
3billion 2 1 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 1 0 0 0 3
GeneReviews 0 0 0 0 0 3 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
Institute of Rare Diseases, West China Hospital, Sichuan University 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1

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