ClinVar Miner

Variants studied for Brugada syndrome

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
106 61 1191 601 213 225 2239

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 75 51 366 163 47 210 805
CACNA1C 2 0 111 96 17 6 228
HCN4 3 0 124 63 29 0 218
SCN10A 0 1 121 47 25 0 194
CACNB2, NSUN6 1 0 92 42 15 0 137
SCN3B 4 1 66 33 4 0 105
GPD1L 4 1 53 42 9 0 100
LOC110121269, SCN5A 8 3 52 21 7 8 90
SCN1B 3 1 46 27 14 0 85
KCNE3 1 1 48 21 1 0 69
CACNA2D1 0 0 24 10 22 0 56
CACNB2 1 0 20 13 2 1 35
SLMAP 0 0 16 7 7 0 30
LOC110121288, SCN10A 0 0 17 8 4 0 29
KCNJ8 0 0 8 3 5 0 16
KCNE5 0 0 6 3 1 0 10
KCND3 3 1 3 0 0 0 6
TRPM4 0 0 5 0 0 0 5
KCNH2 0 1 1 1 0 0 3
ANK2 0 0 2 0 0 0 2
CACNA2D1, LOC101927356 0 0 0 0 2 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
AKAP9 0 0 0 0 1 0 1
ANKRD1 0 0 1 0 0 0 1
COL5A1 0 0 1 0 0 0 1
KCNA5 0 0 0 0 1 0 1
KCNE1 0 0 1 0 0 0 1
KCNQ1 0 0 1 0 0 0 1
LAMA4 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
RYR2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 28 741 364 190 0 1380
Illumina Clinical Services Laboratory,Illumina 0 1 387 226 18 0 632
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
Fulgent Genetics 4 1 34 0 0 0 39
OMIM 35 0 0 0 0 0 35
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 7 4 16 0 0 0 27
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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 6 6 0 12
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 4 5 2 0 11
GeneReviews 10 0 0 0 0 0 10
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 3 4 0 0 0 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 2 2 0 8
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 1 3 0 2 0 8
Phosphorus, Inc. 0 0 5 1 2 0 8
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 2 1 0 0 0 4
Center for Medical Genetics Ghent,University of Ghent 0 4 0 0 0 0 4
Center for Human Genetics,University of Leuven 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 1 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 0 1

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