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 |
27
|
12
|
701
|
515
|
105
|
3
|
1155
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
21
|
6
|
492
|
369
|
31
|
0 |
919
|
Ambry Genetics
|
0 |
0 |
205
|
186
|
23
|
0 |
414
|
GeneDx
|
1
|
1
|
102
|
83
|
67
|
0 |
254
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
92
|
20
|
9
|
0 |
105
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
86
|
12
|
0 |
0 |
98
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
26
|
29
|
29
|
0 |
84
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
29
|
32
|
17
|
0 |
78
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
1
|
24
|
14
|
12
|
0 |
51
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
5
|
0 |
35
|
0 |
40
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
6
|
19
|
13
|
0 |
38
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
6
|
14
|
15
|
0 |
35
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
9
|
11
|
10
|
0 |
30
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
10
|
14
|
6
|
0 |
30
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
7
|
9
|
12
|
0 |
28
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
9
|
7
|
11
|
0 |
27
|
Blueprint Genetics
|
0 |
1
|
12
|
1
|
0 |
0 |
14
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
10
|
0 |
3
|
0 |
13
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
7
|
2
|
4
|
0 |
13
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
3
|
9
|
1
|
0 |
13
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Phosphorus, Inc.
|
0 |
0 |
1
|
5
|
0 |
0 |
6
|
Cohesion Phenomics
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Revvity Omics, Revvity
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
0 |
1
|
4
|
0 |
5
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genetics and Genomics Program, Sidra Medicine
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Dept of Medical Biology, Uskudar University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
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 Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Loeys Lab, Universiteit Antwerpen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Cardiology, Hunan Children’s Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Research Unit of Cardiovascular and Metabolic Disease, Inserm
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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