ClinVar Miner

Variants studied for Brugada syndrome

Coded as:
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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
67 53 1084 312 33 224 1706

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN5A 58 47 421 62 3 209 740
CACNA1C 0 0 100 96 18 6 218
SCN10A 0 1 161 15 5 0 182
SCN3B 0 0 64 30 0 0 94
GPD1L 0 0 58 34 0 0 92
CACNB2, NSUN6 0 0 61 22 0 0 83
LOC110121269, SCN5A 7 4 58 8 0 8 81
KCNE3 0 0 39 20 0 0 59
CACNA2D1 0 0 29 6 1 0 36
SLMAP 0 0 22 1 3 0 26
LOC110121288, SCN10A 0 0 16 1 1 0 18
CACNB2 0 0 10 3 0 1 14
SCN1B 0 0 5 8 1 0 14
KCNJ8 0 0 10 0 0 0 10
KCNE5 0 0 5 1 0 0 6
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 0 0 1 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
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
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: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 63 31 663 75 10 0 842
Illumina Clinical Services Laboratory,Illumina 0 0 386 226 18 0 630
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
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 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
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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 1 1 1 0 0 5
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
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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