ClinVar Miner

Variants studied for Jervell and Lange-Nielsen syndrome 1

Included ClinVar conditions (3):
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
21 4 71 17 21 4 138

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 20 3 67 17 19 4 130
KCNQ1, KCNQ1OT1 1 0 4 0 2 0 7
KCNE1 0 1 0 0 0 0 1

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 61 17 21 0 99
Fulgent Genetics,Fulgent Genetics 5 1 9 0 0 0 15
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
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
Health in Code S.L. 0 1 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
Division of Laboratory Medicine and Clinical Genetics,Chiba University Hospital 1 0 0 0 0 0 1

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