ClinVar Miner

Variants studied for Jervell and Lange-Nielsen syndrome 2

Coded as:
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 total
6 0 58 14 24 101

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
KCNE1 6 58 14 24 101

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 55 14 24 93
OMIM 3 0 0 0 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 0 0 3
Baylor Genetics 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1

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