ClinVar Miner

Variants studied for Brugada syndrome 1

Coded as:
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 total
33 13 173 44 33 283

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SCN5A 32 13 151 36 27 247
LOC110121269, SCN5A 1 0 14 4 3 21
SCN10A 0 0 5 4 1 10
AKAP9 0 0 0 0 1 1
KCNA5 0 0 0 0 1 1
KCNH2 0 0 1 0 0 1
KCNJ8 0 0 1 0 0 1
RYR2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 118 35 23 177
Mendelics 1 0 47 10 9 67
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 8 6 7 0 0 21
OMIM 16 0 0 0 0 16
GeneReviews 4 0 0 0 0 4
Center for Medical Genetics Ghent,University of Ghent 0 4 0 0 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 2 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 3
Center for Human Genetics,University of Leuven 0 0 2 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.