ClinVar Miner

Variants studied for Jervell and Lange-Nielsen syndrome

Included ClinVar conditions (5):
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
26 6 72 76 25 4 208

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 19 4 41 36 7 4 111
KCNE1 6 2 29 33 16 0 85
KCNQ1, KCNQ1OT1 1 0 2 7 2 0 12

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 63 76 25 0 164
Fulgent Genetics 5 1 10 0 0 0 16
OMIM 11 0 0 0 0 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 5 0 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
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 0 0 0 3
GeneReviews 1 0 0 0 0 0 1
CSER_CC_NCGL; University of Washington 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

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