ClinVar Miner

Variants studied for Brugada 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 not provided total
60 49 944 481 147 224 1809

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 52 43 354 161 47 209 784
CACNA1C 0 0 100 96 17 6 218
SCN10A 0 1 121 47 25 0 194
GPD1L 0 1 52 41 9 0 98
SCN3B 0 0 64 30 0 0 94
LOC110121269, SCN5A 7 3 52 21 7 8 90
CACNB2, NSUN6 0 0 61 22 0 0 83
KCNE3 0 0 39 20 0 0 59
CACNA2D1 0 0 24 10 22 0 56
SLMAP 0 0 16 7 7 0 30
LOC110121288, SCN10A 0 0 17 8 4 0 29
KCNJ8 0 0 7 3 5 0 15
CACNB2 0 0 10 2 0 1 13
SCN1B 0 0 4 8 1 0 13
KCNE5 0 0 6 3 1 0 10
TRPM4 0 0 5 0 0 0 5
ANK2 0 0 2 0 0 0 2
CACNA2D1, LOC101927356 0 0 0 0 2 0 2
HCN4 0 0 2 0 0 0 2
KCNH2 0 1 0 1 0 0 2
ABCC9 0 0 0 1 0 0 1
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 0 0 1 0 0 0 1
ANKRD1 0 0 1 0 0 0 1
COL5A1 0 0 1 0 0 0 1
KCND3 0 0 1 0 0 0 1
KCNQ1 0 0 1 0 0 0 1
LOC110121269, LOC110121288, SCN10A, SCN5A 1 0 0 0 0 0 1
MYBPC3 0 0 1 0 0 0 1
PKP2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 55 28 528 251 128 0 990
Illumina Clinical Services Laboratory,Illumina 0 0 386 226 18 0 630
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
Blueprint Genetics, 1 5 13 1 0 0 20
CSER_CC_NCGL; University of Washington Medical Center 0 1 13 2 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 10 0 0 0 0 14
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 3 4 0 0 0 9
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 3 4 1 0 8
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 4 0 0 0 5
Phosphorus, Inc. 0 0 3 1 1 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 2 1 0 0 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 1 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Human Genetics,University of Leuven 0 0 1 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 1 0 0 0 1

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