ClinVar Miner

Variants studied for Brugada syndrome

Coded as:
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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
104 60 1146 342 155 224 1931

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 90 53 548 180 60 209 1049
SCN10A 0 1 263 67 32 0 363
LOC110121269, SCN5A 11 5 73 27 8 8 124
CACNA2D1 0 0 47 13 24 0 84
GPD1L 0 0 40 18 11 0 69
LOC110121288, SCN10A 0 0 32 10 4 0 46
SLMAP 0 0 41 2 3 0 46
CACNA1C 0 0 11 4 3 6 24
CACNB2, NSUN6 0 0 24 0 0 0 24
KCNJ8 0 0 11 5 8 0 24
KCNE5 0 0 8 4 1 0 13
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
TTN 0 0 3 0 1 0 4
ANK2 0 0 2 2 0 0 3
HCN4 0 0 2 0 0 0 2
HRC, TRPM4 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, 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
ANKRD1 0 0 1 0 0 0 1
COL5A1 0 0 1 0 0 0 1
KCND3 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
PKP2 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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 99 34 1019 321 149 0 1622
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
Illumina Clinical Services Laboratory,Illumina 0 0 77 10 2 0 89
Blueprint Genetics 1 5 13 1 0 0 20
CSER _CC_NCGL, University of Washington 0 1 13 2 0 0 16
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 10 0 0 0 0 13
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 6 2 4 0 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 4 5 0 1 0 12
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 6 3 2 0 12
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 2 5 1 0 0 10
Biesecker Lab/Clinical Genomics 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 5 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
Centre of Medical Genetics, University of Antwerp 1 1 0 0 0 0 2
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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