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 |
86
|
27
|
429
|
408
|
51
|
4
|
930
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
76
|
14
|
308
|
381
|
27
|
0 |
806
|
Eurofins Ntd Llc (ga)
|
6
|
0 |
92
|
3
|
10
|
0 |
111
|
Fulgent Genetics, Fulgent Genetics
|
6
|
5
|
66
|
13
|
2
|
0 |
92
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
58
|
11
|
5
|
0 |
76
|
Ambry Genetics
|
0 |
0 |
38
|
1
|
0 |
0 |
39
|
GeneDx
|
2
|
0 |
6
|
4
|
26
|
0 |
38
|
Preventiongenetics, part of Exact Sciences
|
1
|
1
|
5
|
12
|
12
|
0 |
31
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
3
|
7
|
0 |
0 |
11
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
0 |
3
|
2
|
1
|
0 |
6
|
Revvity Omics, Revvity Omics
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
3
|
2
|
0 |
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
1
|
2
|
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Molecular Biology Laboratory, Fundació Puigvert
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bionano Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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