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
27 11 13 0 2 50

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SCN5A 26 11 10 0 44
AKAP9 0 0 0 1 1
KCNA5 0 0 0 1 1
KCNH2 0 0 1 0 1
KCNJ8 0 0 1 0 1
LOC110121269, SCN5A 1 0 0 0 1
RYR2 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance benign total
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 7 4 7 0 18
OMIM 16 0 0 0 16
GeneReviews 4 0 0 0 4
Center for Medical Genetics Ghent,University of Ghent 0 4 0 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 2 3
Illumina Clinical Services Laboratory,Illumina 0 1 1 0 2
Center for Human Genetics,University of Leuven 0 0 2 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 1
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 0 0 1

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