ClinVar Miner

Variants studied for conduction system disorder

Included ClinVar conditions (14):
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 risk factor not provided total
26 6 250 44 88 1 2 370

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SCN5A 14 3 170 35 42 0 2 228
HCN4 8 0 43 3 40 0 0 92
LOC110121269, SCN5A 0 0 20 4 6 0 0 24
MYH6 0 0 9 0 0 1 0 10
FPGT-TNNI3K, TNNI3K 3 0 0 0 0 0 0 3
HRC, TRPM4 0 0 2 1 0 0 0 3
TRPM4 0 0 2 1 0 0 0 3
FPGT-TNNI3K, LRRC53, TNNI3K 1 1 1 0 0 0 0 2
LOC114827851, MYH6 0 0 2 0 0 0 0 2
DSP 0 1 0 0 0 0 0 1
MECP2 0 1 0 0 0 0 0 1
SNTA1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 217 44 87 0 0 306
Fulgent Genetics,Fulgent Genetics 3 0 29 0 0 0 0 32
OMIM 20 0 0 0 0 1 0 21
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 6 0 0 0 0 9
Mendelics 0 0 2 0 0 0 0 2
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 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.