ClinVar Miner

Variants studied for Congenital long QT syndrome

Coded as:
Minimum submission review status: Collection method:
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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 risk factor not provided total
13 21 382 178 45 1 892 1512

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
KCNH2 3 7 0 0 1 0 356 358
KCNQ1 10 11 33 25 6 0 276 353
SCN5A 0 1 79 16 1 0 160 257
AKAP9 0 0 76 26 0 0 0 102
KCNE1 0 1 28 31 16 1 25 100
KCNJ5 0 0 59 19 18 0 0 96
SCN4B 0 0 46 30 0 0 0 76
KCNJ2 0 0 1 0 0 0 42 43
CAV3, OXTR 0 0 15 7 0 0 0 22
SNTA1 0 0 14 8 0 0 0 21
LOC110121269, SCN5A 0 0 6 3 0 0 11 20
KCNE2, LOC105372791 0 0 8 1 0 0 10 19
KCNQ1, KCNQ1OT1 0 1 2 7 2 0 1 13
ANK2 0 0 1 0 0 0 9 10
LOC130065680, SNTA1 0 0 8 2 0 0 0 10
CAV3 0 0 2 2 0 0 0 4
CACNA1C 0 0 1 0 0 0 2 3
AKAP9, LOC129998789 0 0 0 1 0 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 0 1
CALM3 0 0 0 0 1 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 0 0 1
LOC130065679, SNTA1 0 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 risk factor not provided total
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 892 892
Illumina Laboratory Services, Illumina 0 0 378 177 42 0 0 597
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 10 19 0 0 0 1 0 30
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 1 2 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 2
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 1 0 0 0 0 0 0 1
Razi Pathobiology & Medical Genetics 0 0 0 0 1 0 0 1

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