ClinVar Miner

Variants studied for Brugada syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
43 79 1848 1434 183 224 3778

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN10A 0 1 790 557 47 0 1395
CACNA2D1 0 0 266 357 52 0 675
SLMAP 0 0 233 201 31 0 465
SCN5A 39 65 81 21 5 209 391
GPD1L 0 0 138 139 14 0 291
LOC110121288, SCN10A 0 0 100 69 15 0 184
KCNJ8 0 0 86 54 10 0 150
KCNE5 0 0 60 22 5 0 87
LOC110121269, SCN5A 2 7 15 2 2 8 34
CACNA1C 0 0 5 1 1 6 13
GPD1L, LOC129936414 0 0 9 4 0 0 13
ANK2 0 1 11 1 0 0 12
CACNB2 0 0 10 1 0 1 12
TTN 0 0 6 0 0 0 6
TRPM4 0 0 5 0 0 0 5
HCN4 0 0 3 0 0 0 3
MYBPC3 0 1 2 0 0 0 3
ABCC9, KCNJ8 0 0 2 0 0 0 2
HRC, TRPM4 0 0 2 0 0 0 2
KCND3 0 1 1 0 0 0 2
KCNH2 0 1 0 1 0 0 2
SCN1B 0 1 1 0 0 0 2
SCN3B 0 0 2 0 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, LOC120285841, LOC121725139, LOC122889068, LOC122889069, LOC126806651, LOC126806652, LOC129389057, LOC129389058, LOC129936473, LOC129936474, LOC129936475, LOC129936476, LOC129936477, LOC129936478, LOC129936479, LOC129936480, LOC129936481, LOC129936482, LOC129936483, LOC129936484, LOC129936485, LOC129936486, LOC129936487, LOC129936488, LOC129936489, LOC129936490, 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, LOC129936487, LOC129936488, SCN5A 0 0 1 0 0 0 1
ACVR2B, EXOG, SCN10A, SCN11A, SCN5A 0 0 1 0 0 0 1
AKAP9 0 0 1 0 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 1
ANK2, LOC126807137 0 0 0 1 0 0 1
ANKRD1 0 0 1 0 0 0 1
COL5A1 0 0 1 0 0 0 1
DSP 0 0 1 0 0 0 1
GATA4 0 1 0 0 0 0 1
KCNE3 0 0 1 1 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, LOC129936489, SCN10A, SCN5A 1 0 0 0 0 0 1
LOC126806422, TTN 0 0 1 0 0 0 1
LOC126806431, TTN 0 0 0 0 1 0 1
MYBPHL 0 0 1 0 0 0 1
PKP2 0 0 1 0 0 0 1
RYR2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1
SOS1 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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 3 1735 1413 175 0 3336
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
All of Us Research Program, National Institutes of Health 24 24 4 0 0 0 52
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 6 27 10 5 0 50
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 19 3 0 0 0 26
Blueprint Genetics 1 5 13 1 0 0 20
CSER _CC_NCGL, University of Washington 0 1 13 2 0 0 16
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 8 5 0 0 0 14
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 6 3 2 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 11 0 0 0 11
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 2 2 4 1 0 0 9
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 4 1 0 8
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences 0 6 2 0 0 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 2 5 0 0 0 8
MVZ Martinsried, Medicover Genetics 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
New York Genome Center 0 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 2 0 0 0 3
Centre of Medical Genetics, University of Antwerp 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Lildballe Lab, Aarhus University Hospital 0 0 2 0 0 0 2
Center for Human Genetics, University of Leuven 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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