ClinVar Miner

Variants studied for Brugada syndrome 1

Included ClinVar conditions (24):
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
81 90 1898 1221 226 227 3620

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN10A 0 1 598 427 48 0 1068
SCN5A 74 80 446 131 38 212 876
CACNA2D1 0 1 205 261 52 0 518
SLMAP 0 0 178 149 30 0 357
GPD1L 0 0 113 106 14 0 233
LOC110121288, SCN10A 0 0 79 54 15 0 148
KCNJ8 0 0 66 37 10 0 113
LOC110121269, SCN5A 4 5 58 10 6 8 81
KCNE5 0 0 41 22 4 0 67
CACNB2 0 0 28 3 0 1 32
CACNA1C 0 0 11 4 2 6 23
TTN 0 0 12 3 1 0 16
GPD1L, LOC129936414 0 0 9 3 0 0 12
KCNE3 0 0 7 4 0 0 11
SCN3B 0 0 10 0 0 0 10
KCNH2 0 3 1 1 0 0 5
TRPM4 0 0 5 0 0 0 5
ANK2 0 0 3 1 0 0 3
DSP 0 0 1 0 1 0 2
HCN4 0 0 2 0 0 0 2
HRC, TRPM4 0 0 2 0 0 0 2
MYBPC3 0 0 2 0 0 0 2
MYH6 0 0 1 1 0 0 2
PKP2 0 0 1 0 1 0 2
SCN1B 0 0 2 0 0 0 2
ABCC9 0 0 0 1 0 0 1
ABCC9, KCNJ8 0 0 1 0 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 0 0 1 0 1
ANK2, LOC126807137 0 0 0 1 0 0 1
ANKRD1 0 0 1 0 0 0 1
CACNA1C, LOC130007181 0 0 0 0 1 0 1
COL5A1 0 0 1 0 0 0 1
DMD 0 0 0 1 0 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, LOC129936489, SCN10A, SCN5A 1 0 0 0 0 0 1
LOC126806431, TTN 0 0 0 0 1 0 1
MYBPHL 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: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 7 1434 1137 174 0 2769
Illumina Laboratory Services, 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
Fulgent Genetics, Fulgent Genetics 12 6 162 10 5 0 195
Mendelics 2 0 39 10 16 0 67
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 4 22 9 4 0 40
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 12 9 13 0 0 0 34
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, Mass General Brigham Personalized Medicine 5 13 0 0 0 0 18
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 6 8 0 1 0 18
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 15 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 2 3 7 0 2 0 14
New York Genome Center 1 0 13 0 0 0 14
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 4 5 2 0 11
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 4 5 0 0 0 11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 2 2 0 8
MGZ Medical Genetics Center 1 2 4 0 0 0 7
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
Baylor Genetics 1 1 2 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 2 1 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Center for Medical Genetics Ghent, University of Ghent 0 4 0 0 0 0 4
Roden Lab, Vanderbilt University Medical Center 0 3 0 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
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
Centogene AG - the Rare Disease Company 0 1 1 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
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Cardiology unit, Meyer University Hospital 0 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Research Institute, Imperial College London Diabetes Centre 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 0 0 0 0 1
Muscat Medical Center, Bion Medical Genetic Lab 1 0 0 0 0 0 1

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