ClinVar Miner

Variants studied for Cardiac arrhythmia

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 not provided total
115 89 1252 1093 165 6 2709

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 24 30 586 456 46 0 1138
KCNH2 32 15 311 322 38 0 716
KCNQ1 43 33 169 179 24 0 448
LOC110121269, SCN5A 2 1 82 58 7 0 150
RANGRF, SLC25A35 0 0 57 42 4 0 103
KCNQ1, KCNQ1OT1 4 0 21 14 3 0 42
RYR2 0 1 2 1 25 0 29
LOC130060241, RANGRF, SLC25A35 0 0 13 7 1 0 21
ANK2 0 1 2 3 4 5 11
CACNA1C 1 2 1 0 2 0 6
LOC130060243, RANGRF, SLC25A35 0 0 2 3 1 0 6
DSP 2 3 0 0 0 0 5
PKP2 4 0 0 0 0 0 4
AKAP9 0 0 0 2 1 0 3
JUP 0 0 0 0 3 0 3
KCNJ2 1 0 0 0 1 1 3
CACNB2 0 0 0 1 1 0 2
KCNE2, LOC105372791 0 1 1 1 0 0 2
SCN1B 0 1 0 0 1 0 2
SCN3B 1 0 1 0 0 0 2
ACADVL 1 0 0 0 0 0 1
ANK2, LOC126807137 0 0 0 1 0 0 1
ATP1B1, NME7 0 0 1 0 0 0 1
CASQ2 0 0 0 0 1 0 1
DSG2 0 0 0 0 1 0 1
HCN4 0 0 1 0 0 0 1
KCNA5 0 0 1 0 0 0 1
KCNE1 0 0 0 1 0 0 1
KCNJ8 0 0 1 0 0 0 1
LIG3 0 0 0 1 0 0 1
LOC114827827, NPPA 0 0 0 0 1 0 1
LOC126806067, RYR2 0 1 0 0 0 0 1
NOS1AP 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color Diagnostics, LLC DBA Color Health 74 64 1165 1028 112 0 2443
Invitae 0 0 72 52 6 0 130
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 22 2 6 19 0 70
GeneDx 22 0 2 3 6 0 33
Genome-Nilou Lab 0 0 0 0 23 0 23
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 4 3 0 8
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 6 6
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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