ClinVar Miner

Variants studied for Congenital long QT syndrome

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 not provided total
4 16 1 0 0 892 902

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
KCNH2 1 4 0 356 357
KCNQ1 3 10 0 276 283
SCN5A 0 0 0 160 160
KCNJ2 0 0 0 42 42
KCNE1 0 1 0 25 25
LOC110121269, SCN5A 0 0 0 11 11
ANK2 0 0 1 9 10
KCNE2 0 0 0 10 10
CACNA1C 0 0 0 2 2
KCNQ1, KCNQ1OT1 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 892 892
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 16 0 0 20
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 1

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