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 |
23
|
11
|
355
|
255
|
149
|
715
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
19
|
7
|
198
|
183
|
55
|
462
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
134
|
27
|
20
|
181
|
GeneDx
|
1
|
0 |
6
|
30
|
99
|
136
|
Fulgent Genetics, Fulgent Genetics
|
5
|
2
|
56
|
26
|
1
|
90
|
Ambry Genetics
|
0 |
0 |
53
|
4
|
0 |
57
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
3
|
23
|
13
|
39
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
37
|
37
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
5
|
3
|
9
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
9
|
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
4
|
2
|
7
|
Revvity Omics, Revvity
|
1
|
2
|
3
|
0 |
0 |
6
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
3
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
1
|
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
0 |
0 |
2
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
2
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
0 |
2
|
0 |
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
2
|
3billion
|
1
|
0 |
1
|
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
0 |
0 |
1
|
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
1
|
Department of Urology, Hunan Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
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