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 |
total |
|
26
|
13
|
394
|
515
|
80
|
960
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
17
|
3
|
256
|
465
|
41
|
782
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
82
|
14
|
18
|
114
|
|
Ambry Genetics
|
0 |
0 |
93
|
0 |
0 |
93
|
|
GeneDx
|
0 |
0 |
11
|
26
|
45
|
82
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
5
|
19
|
36
|
60
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
4
|
16
|
2
|
22
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
4
|
11
|
0 |
15
|
|
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute
|
0 |
10
|
0 |
0 |
0 |
10
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
7
|
8
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
6
|
1
|
0 |
7
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
7
|
0 |
7
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
5
|
0 |
0 |
5
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
2
|
0 |
5
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
4
|
0 |
4
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
4
|
|
3billion
|
1
|
0 |
0 |
3
|
0 |
4
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
1
|
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
1
|
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Medical Genetics Clinic, University of Catania
|
0 |
0 |
1
|
0 |
0 |
1
|
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