ClinVar Miner

Variants studied for Brugada syndrome

Included ClinVar conditions (33):
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
118 68 1400 367 69 225 2117

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 86 58 449 68 12 210 789
CACNA1C 2 0 111 96 18 6 228
SCN10A 0 1 165 19 6 0 191
HCN4 3 0 150 16 4 0 173
CACNB2, NSUN6 1 0 98 31 7 0 129
SCN3B 4 1 69 30 1 0 103
GPD1L 4 0 59 35 1 0 94
LOC110121269, SCN5A 8 4 62 8 0 8 84
SCN1B 3 1 53 14 5 0 74
KCNE3 1 0 50 20 1 0 69
CACNA2D1 0 0 29 6 1 0 36
CACNB2 1 0 21 10 3 1 33
SLMAP 0 0 22 1 3 0 26
LOC110121288, SCN10A 0 0 16 1 1 0 18
KCNJ8 0 0 12 0 0 0 12
TTN 0 0 3 3 2 0 8
KCND3 3 1 3 0 0 0 6
KCNE5 0 0 5 1 0 0 6
TRPM4 0 0 4 0 0 0 4
ANK2 0 0 2 2 0 0 3
KCNH2 0 1 1 1 0 0 3
HRC, TRPM4 0 0 2 0 0 0 2
KCNE3, LIPT2 0 1 0 1 0 0 2
LAMA4 0 0 2 0 0 0 2
PKP2 0 0 1 0 1 0 2
ABCC9 0 0 0 1 0 0 1
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111465007, LOC112935929, LOC112935930, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 1 0 0 0 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
ACVR2B, EXOG, LOC110121269, LOC110121286, LOC110121287, SCN5A 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
DMD 0 0 0 1 0 0 1
DSP 0 0 0 0 1 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
LOC110121269, LOC110121288, SCN10A, SCN5A 1 0 0 0 0 0 1
MYBPC3 0 0 1 0 0 0 1
MYH6 0 0 0 1 0 0 1
RYR2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1
TCAP 0 0 0 1 0 0 1
TGFB3 0 0 1 0 0 0 1
TTR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 31 919 107 17 0 1139
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
Mendelics 1 0 48 10 14 0 73
Fulgent Genetics,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 5 18 0 0 0 30
Blueprint Genetics 1 5 13 1 0 0 20
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 6 7 5 0 19
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 12 0 0 0 0 17
CSER _CC_NCGL, University of Washington 0 1 13 2 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 6 6 0 12
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 4 5 0 1 0 12
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 4 5 2 0 11
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 1 4 2 2 0 11
GeneReviews 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 4 0 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 2 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 2 0 0 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 0 0 0 0 1

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