ClinVar Miner

Variants studied for Cardiac arrhythmia

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
171 117 2045 1554 166 6 4026

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 not provided total
SCN5A 40 40 1090 711 46 0 1907
KCNH2 43 23 433 427 39 0 963
KCNQ1 69 42 220 228 24 0 582
LOC110121269, SCN5A 3 1 160 87 7 0 253
RANGRF, SLC25A35 0 0 77 54 4 0 135
KCNQ1, KCNQ1OT1 4 0 28 20 3 0 55
RYR2 0 1 1 1 25 0 28
LOC130060241, RANGRF, SLC25A35 0 0 17 9 1 0 27
ANK2 0 0 2 3 4 5 10
LOC130060243, RANGRF, SLC25A35 0 0 2 6 1 0 9
CACNA1C 2 1 1 0 2 0 6
DSP 2 3 0 0 0 0 5
JUP 0 0 1 0 3 0 4
KCNJ2 2 0 0 0 1 1 4
AKAP9 0 0 0 2 1 0 3
PKP2 3 0 0 0 0 0 3
CACNB2 0 0 0 1 1 0 2
DSC2 0 0 2 0 0 0 2
KCNA5 0 0 2 0 0 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
AGXT 0 1 0 0 0 0 1
ANK2, LOC126807137 0 0 0 1 0 0 1
ASS1 0 1 0 0 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
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
PPA2 0 0 1 0 0 0 1
PRDM16 0 0 1 0 0 0 1
SDHA 0 1 0 0 0 0 1
SDHB 0 0 1 0 0 0 1
SLC25A15 1 0 0 0 0 0 1
SLC4A3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color Diagnostics, LLC DBA Color Health 123 92 1561 1337 113 0 3226
All of Us Research Program, National Institutes of Health 0 0 789 447 27 0 1263
Labcorp Genetics (formerly Invitae), Labcorp 0 0 96 69 6 0 171
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 24 2 6 19 0 80
GeneDx 22 0 2 3 6 0 33
Genome-Nilou Lab 0 0 0 0 23 0 23
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 8 0 0 0 10
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 3
CSER _CC_NCGL, University of Washington 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Blueprint Genetics 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1

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