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 |
13
|
13
|
927
|
611
|
105
|
1
|
1
|
1559
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Brugada syndrome 8
|
3
|
8
|
731
|
516
|
43
|
0 |
0 |
1299
|
Cardiovascular phenotype
|
2
|
1
|
277
|
232
|
19
|
0 |
0 |
531
|
not provided
|
4
|
2
|
151
|
86
|
41
|
0 |
1
|
261
|
Sick sinus syndrome 2, autosomal dominant
|
8
|
0 |
42
|
3
|
39
|
0 |
0 |
90
|
not specified
|
0 |
0 |
9
|
38
|
49
|
0 |
0 |
89
|
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18
|
0 |
0 |
58
|
6
|
1
|
0 |
0 |
65
|
HCN4-related condition
|
0 |
1
|
10
|
21
|
7
|
0 |
0 |
39
|
Inborn genetic diseases
|
0 |
0 |
17
|
0 |
0 |
0 |
0 |
17
|
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8
|
0 |
0 |
7
|
0 |
0 |
0 |
0 |
7
|
Cardiomyopathy
|
0 |
0 |
2
|
1
|
2
|
0 |
0 |
5
|
Left ventricular noncompaction cardiomyopathy
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
4
|
Brugada syndrome
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Hypertrophic cardiomyopathy
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Long QT syndrome
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Ventricular tachycardia
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Arrhythmogenic right ventricular cardiomyopathy
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Atrial fibrillation
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Atrial fibrillation; Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Cardiac arrest
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cardiac arrhythmia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Congestive heart failure
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Epilepsy, idiopathic generalized, susceptibility to, 18
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Left ventricular noncompaction
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Primary dilated cardiomyopathy
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Primary dilated cardiomyopathy; Cardiomyopathy
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Sick sinus syndrome 2, autosomal dominant; Epilepsy, idiopathic generalized, susceptibility to, 18
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Sinoatrial node disorder
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Sudden cardiac death
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Sudden cardiac death; Sinus bradycardia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
3
|
8
|
726
|
516
|
43
|
0 |
0 |
1296
|
Ambry Genetics
|
2
|
1
|
294
|
232
|
19
|
0 |
0 |
548
|
GeneDx
|
1
|
1
|
90
|
93
|
37
|
0 |
0 |
222
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
40
|
3
|
38
|
0 |
0 |
81
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
60
|
6
|
1
|
0 |
0 |
67
|
Eurofins Ntd Llc (ga)
|
0 |
1
|
39
|
2
|
21
|
0 |
0 |
63
|
Clinical Genetics, Academic Medical Center
|
2
|
0 |
12
|
3
|
35
|
0 |
0 |
52
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
10
|
21
|
13
|
0 |
0 |
45
|
Athena Diagnostics Inc
|
0 |
0 |
7
|
4
|
18
|
0 |
0 |
29
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
5
|
19
|
3
|
0 |
0 |
27
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
2
|
0 |
10
|
11
|
2
|
0 |
0 |
25
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
1
|
10
|
11
|
0 |
0 |
23
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
2
|
0 |
0 |
12
|
7
|
0 |
0 |
21
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
5
|
5
|
10
|
0 |
0 |
20
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
4
|
9
|
6
|
0 |
0 |
19
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
10
|
2
|
2
|
0 |
0 |
14
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
12
|
0 |
0 |
12
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
12
|
0 |
0 |
0 |
0 |
12
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
4
|
2
|
5
|
0 |
0 |
11
|
OMIM
|
8
|
0 |
1
|
0 |
0 |
1
|
0 |
10
|
Revvity Omics, Revvity
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
6
|
0 |
0 |
7
|
Blueprint Genetics
|
0 |
0 |
7
|
0 |
0 |
0 |
0 |
7
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Center for Human Genetics, University of Leuven
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Klaassen Lab, Charite University Medicine Berlin
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
1
|
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
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dept of Medical Biology, Uskudar University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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