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 |
|
1
|
3
|
1308
|
840
|
212
|
40
|
2184
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
808
|
473
|
83
|
0 |
1364
|
|
Ambry Genetics
|
0 |
0 |
732
|
406
|
10
|
0 |
1148
|
|
GeneDx
|
0 |
1
|
210
|
155
|
159
|
0 |
525
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
50
|
59
|
38
|
3
|
150
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
106
|
19
|
2
|
0 |
127
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
24
|
45
|
52
|
0 |
121
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
10
|
7
|
62
|
0 |
79
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
19
|
31
|
18
|
0 |
68
|
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
0 |
27
|
17
|
22
|
0 |
66
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
8
|
36
|
22
|
0 |
66
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
8
|
30
|
12
|
0 |
50
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
8
|
24
|
16
|
0 |
48
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
4
|
22
|
19
|
0 |
45
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
8
|
12
|
21
|
0 |
41
|
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
21
|
6
|
10
|
0 |
37
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
35
|
35
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
8
|
11
|
6
|
0 |
25
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
21
|
0 |
0 |
24
|
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
15
|
0 |
0 |
0 |
15
|
|
Blueprint Genetics
|
0 |
0 |
12
|
0 |
0 |
0 |
12
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
0 |
12
|
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
0 |
11
|
0 |
0 |
0 |
11
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
2
|
6
|
1
|
0 |
9
|
|
Revvity Omics, Revvity
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
3
|
1
|
1
|
0 |
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
|
Klaassen Lab, Charite University Medicine Berlin
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Medical Genetics, Mumbai
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics and Genomics Program, Sidra Medicine
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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