ClinVar Miner

Variants studied for Brugada syndrome 1

Included ClinVar conditions (21):
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
162 87 1593 611 179 225 2632

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 143 79 790 331 77 210 1433
SCN10A 0 1 337 116 33 0 483
LOC110121269, SCN5A 15 6 100 39 9 8 154
GPD1L 0 0 74 36 11 0 121
CACNA2D1 0 0 64 29 24 0 117
SLMAP 0 0 59 13 3 0 75
LOC110121288, SCN10A 0 0 42 13 4 0 59
KCNJ8 0 0 20 8 8 0 36
CACNA1C 0 0 11 4 3 6 24
CACNB2, NSUN6 0 0 24 0 0 0 24
TTN 0 0 13 3 2 0 18
KCNE5 0 0 11 5 1 0 17
KCNE3 0 0 7 4 0 0 11
SCN3B 0 0 10 0 0 0 10
CACNB2 0 0 4 3 0 1 8
TRPM4 0 0 4 0 0 0 4
ANK2 0 0 2 2 0 0 3
KCNH2 0 1 1 1 0 0 3
HCN4 0 0 2 0 0 0 2
HRC, TRPM4 0 0 2 0 0 0 2
MYH6 0 0 1 1 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, LOC120285841, 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 1 0 0 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
FBN1 1 0 0 0 0 0 1
KCNA5 0 0 0 0 1 0 1
KCND3 0 0 1 0 0 0 1
KCNE1 0 0 1 0 0 0 1
KCNJ2 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
RYR2 0 0 1 0 0 0 1
SCN1B 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: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 124 40 1326 548 149 0 2187
Illumina Clinical Services Laboratory,Illumina 0 1 198 46 25 0 270
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
Mendelics 1 0 47 10 9 0 67
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 11 8 13 0 0 0 32
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 11 5 4 0 21
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 13 0 0 0 0 18
Fulgent Genetics,Fulgent Genetics 3 0 15 0 0 0 18
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 3 6 7 0 1 0 17
OMIM 16 0 0 0 0 0 16
CSER _CC_NCGL, University of Washington 0 1 13 2 0 0 16
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 3 2 7 2 2 0 16
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 4 5 2 0 11
New York Genome Center 0 0 11 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 1 0 6 0 2 0 9
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 5 2 2 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 2 0 0 0 6
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
GeneReviews 4 0 0 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 1 0 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
Baylor Genetics 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Centre of Medical Genetics, University of Antwerp 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 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
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1

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