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
120 66 1340 578 194 225 2323

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 108 60 573 210 76 210 1072
SCN10A 0 1 211 69 33 0 310
CACNA1C 0 0 101 96 18 6 219
LOC110121269, SCN5A 9 4 74 31 9 8 114
GPD1L 0 0 64 45 11 0 113
SCN3B 0 0 65 30 0 0 95
CACNB2, NSUN6 0 0 61 22 0 0 83
CACNA2D1 0 0 37 13 24 0 74
KCNE3 0 0 39 20 0 0 59
LOC110121288, SCN10A 0 0 26 10 4 0 40
SLMAP 0 0 30 2 3 0 35
KCNJ8 0 0 12 5 8 0 25
CACNB2 0 0 10 3 0 1 14
SCN1B 0 0 5 8 1 0 14
KCNE5 0 0 5 4 1 0 10
TTN 0 0 3 3 2 0 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
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 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
KCNA5 0 0 0 0 1 0 1
KCND3 0 0 1 0 0 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
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 86 32 830 323 149 0 1420
Illumina Clinical Services Laboratory,Illumina 0 1 454 241 41 0 737
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 7 5 12 0 0 0 24
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
Fulgent Genetics,Fulgent Genetics 3 0 15 0 0 0 18
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 12 0 0 0 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 2 1 6 2 2 0 13
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 2 2 0 8
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
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
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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 0 2
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

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