ClinVar Miner

Variants studied for Congenital long QT syndrome

Coded as:
Minimum submission review status: Collection method:
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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 risk factor not provided total
26 53 401 178 45 1 892 1562

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
KCNH2 6 19 0 0 1 0 356 370
KCNQ1 15 21 33 25 6 0 276 360
SCN5A 4 5 83 16 1 0 160 266
AKAP9 0 0 76 25 0 0 0 101
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
LOC110121269, SCN5A 0 1 6 3 0 0 11 21
SNTA1 0 0 14 8 0 0 0 21
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
TTN 0 0 3 0 0 0 0 3
AKAP9, CYP51A1 0 0 0 1 0 0 0 1
AKAP9, LOC129998789 0 0 0 1 0 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 0 1
BCL9 0 0 1 0 0 0 0 1
BRAF 0 0 1 0 0 0 0 1
CACNA1D 0 0 1 0 0 0 0 1
CACNA1I 0 0 1 0 0 0 0 1
CALM3 0 0 0 0 1 0 0 1
CCND1 0 0 1 0 0 0 0 1
ITPR3 0 1 0 0 0 0 0 1
KCNA10 0 0 1 0 0 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 0 0 1
LOC130065679, SNTA1 0 0 1 0 0 0 0 1
MBLAC1 0 1 0 0 0 0 0 1
MIDN 0 0 1 0 0 0 0 1
MUC16 0 0 1 0 0 0 0 1
PTPN11 0 1 0 0 0 0 0 1
PTPN13 0 0 1 0 0 0 0 1
SCN10A 0 0 1 0 0 0 0 1
SLC2A2 1 0 0 0 0 0 0 1
UFM1 0 1 0 0 0 0 0 1
VEPH1 0 0 1 0 0 0 0 1
VPS13B 0 1 0 0 0 0 0 1
VSX1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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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 18 40 0 0 0 1 0 59
Genetics and Genomics Program, Sidra Medicine 1 7 15 0 0 0 0 23
All of Us Research Program, National Institutes of Health 4 4 4 0 0 0 0 12
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 1 2 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 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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