ClinVar Miner

Variants studied for Jervell and Lange-Nielsen syndrome

Included ClinVar conditions (10):
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
28 7 151 43 49 4 280

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 21 6 82 22 19 4 154
KCNE1 6 1 64 17 26 0 112
KCNQ1, KCNQ1OT1 1 0 5 4 4 0 14

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 138 43 49 0 230
Fulgent Genetics,Fulgent Genetics 5 1 10 0 0 0 16
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,Partners HealthCare Personalized Medicine 1 4 0 0 0 0 5
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
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 0 0 0 3
Baylor Genetics 0 0 1 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
GeneReviews 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

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