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
|
1
|
1150
|
745
|
209
|
4
|
1921
|
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 |
708
|
416
|
83
|
0 |
1207
|
|
Ambry Genetics
|
0 |
0 |
612
|
350
|
10
|
0 |
972
|
|
GeneDx
|
0 |
1
|
194
|
155
|
159
|
0 |
509
|
|
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 |
7
|
31
|
42
|
0 |
80
|
|
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
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
21
|
0 |
0 |
24
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
6
|
8
|
5
|
0 |
19
|
|
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 |
6
|
0 |
0 |
0 |
6
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
3
|
1
|
1
|
0 |
5
|
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Klaassen Lab, Charite University Medicine Berlin
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
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
|
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Genetics and Genomics Program, Sidra Medicine
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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