ClinVar Miner

Variants in gene KCNJ5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 4 88 38 24 151

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hyperaldosteronism 0 0 59 21 18 98
Romano-Ward syndrome 0 0 59 21 18 98
Long QT syndrome 0 0 20 8 4 32
not specified 0 0 1 11 10 22
not provided 0 3 10 0 0 13
Cardiovascular phenotype 0 0 1 1 5 7
Familial hyperaldosteronism type 3 5 0 0 0 0 5
Aldosterone-producing adrenal adenoma, somatic 2 0 0 0 0 2
Andersen Tawil syndrome 2 0 0 0 0 2
Long QT syndrome 13 1 1 1 0 0 2
Hypertrophic cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 59 21 18 98
GeneDx 0 0 10 11 10 31
Invitae 0 0 19 8 4 31
OMIM 6 0 1 0 0 7
Ambry Genetics 0 0 1 1 5 7
PreventionGenetics 0 0 0 0 6 6
Richard Lifton Laboratory, Yale University School of Medicine 0 3 0 0 0 3
GeneReviews 2 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 0 1 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1

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