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 |
15
|
14
|
832
|
665
|
209
|
2
|
1469
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy
|
1
|
1
|
463
|
518
|
99
|
0 |
1082
|
Cardiovascular phenotype
|
0 |
1
|
236
|
145
|
14
|
0 |
396
|
not provided
|
2
|
5
|
196
|
113
|
94
|
1
|
396
|
not specified
|
0 |
0 |
75
|
89
|
65
|
0 |
198
|
Dilated cardiomyopathy 1AA
|
4
|
3
|
98
|
23
|
7
|
0 |
129
|
Cardiomyopathy
|
0 |
0 |
63
|
34
|
25
|
0 |
121
|
Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant
|
0 |
0 |
75
|
12
|
0 |
0 |
87
|
ACTN2-related condition
|
0 |
0 |
12
|
17
|
5
|
0 |
34
|
Hypertrophic cardiomyopathy
|
0 |
0 |
14
|
15
|
0 |
0 |
29
|
Myopathy, congenital, with structured cores and z-line abnormalities
|
2
|
2
|
2
|
0 |
10
|
0 |
14
|
Inborn genetic diseases
|
0 |
0 |
13
|
0 |
0 |
0 |
13
|
Primary familial hypertrophic cardiomyopathy
|
0 |
0 |
13
|
0 |
0 |
0 |
13
|
Myopathy, distal, 6, adult-onset, autosomal dominant
|
2
|
1
|
5
|
0 |
0 |
0 |
6
|
Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Dilated Cardiomyopathy, Dominant
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Hypertrophic cardiomyopathy 1
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Left ventricular noncompaction cardiomyopathy
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Intrinsic cardiomyopathy
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Primary dilated cardiomyopathy
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
ACTN2-related disorders
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Arrhythmogenic right ventricular cardiomyopathy
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Congestive heart failure
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Dilated cardiomyopathy 1A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Left ventricular noncompaction 1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Long QT syndrome
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Primary familial dilated cardiomyopathy
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Syncope; Hypertrophic cardiomyopathy
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Tetralogy of Fallot
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Ventricular fibrillation
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Wolff-Parkinson-White pattern
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1
|
1
|
463
|
521
|
99
|
0 |
1085
|
Ambry Genetics
|
0 |
1
|
249
|
145
|
14
|
0 |
409
|
GeneDx
|
2
|
1
|
148
|
110
|
113
|
0 |
374
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
48
|
44
|
24
|
0 |
117
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
0 |
60
|
32
|
24
|
0 |
116
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
87
|
22
|
2
|
0 |
111
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
73
|
12
|
0 |
0 |
85
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
17
|
23
|
30
|
0 |
70
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
11
|
5
|
40
|
0 |
56
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
12
|
17
|
10
|
0 |
39
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
7
|
16
|
14
|
0 |
37
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
7
|
22
|
6
|
0 |
35
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
4
|
16
|
13
|
0 |
33
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
9
|
18
|
5
|
0 |
32
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
8
|
15
|
6
|
0 |
29
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
2
|
16
|
7
|
2
|
0 |
27
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
14
|
3
|
2
|
0 |
19
|
Blueprint Genetics
|
0 |
0 |
18
|
0 |
0 |
0 |
18
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
0 |
17
|
0 |
0 |
0 |
17
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
14
|
0 |
0 |
0 |
15
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
2
|
9
|
0 |
14
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
2
|
9
|
0 |
0 |
0 |
11
|
Revvity Omics, Revvity
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
2
|
3
|
0 |
0 |
5
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
SIB Swiss Institute of Bioinformatics
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Human Genetics, University of Leuven
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Phosphorus, Inc.
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Klaassen Lab, Charite University Medicine Berlin
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
3billion
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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