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 |
|
40
|
16
|
163
|
52
|
23
|
12
|
285
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Ambry Genetics
|
5
|
0 |
65
|
8
|
1
|
0 |
79
|
|
GeneDx
|
4
|
1
|
56
|
0 |
4
|
0 |
65
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
3
|
4
|
18
|
7
|
0 |
32
|
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
0 |
6
|
16
|
1
|
0 |
27
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
1
|
0 |
0 |
9
|
13
|
0 |
23
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
1
|
1
|
16
|
0 |
18
|
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
12
|
13
|
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
9
|
2
|
0 |
0 |
11
|
|
Neurogenetics Research; Murdoch Childrens Research Institute
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
3
|
1
|
0 |
4
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
Mendelics
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Tim Yu lab, Boston Children's Hospital
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
ISCA site 1
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics, University of Torino
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics Institute, Tel Aviv Sourasky Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Center, National Cancer Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics, Medical University of Vienna
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Gene Friend Way, National Innovation Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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