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 |
3
|
3
|
141
|
153
|
47
|
306
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
1
|
0 |
91
|
64
|
39
|
194
|
GeneDx
|
1
|
1
|
24
|
95
|
14
|
135
|
Ambry Genetics
|
0 |
0 |
10
|
7
|
11
|
28
|
Athena Diagnostics Inc
|
0 |
0 |
4
|
2
|
8
|
14
|
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
|
0 |
0 |
6
|
1
|
1
|
8
|
CeGaT Praxis fuer Humangenetik Tuebingen
|
1
|
0 |
3
|
2
|
0 |
6
|
OMIM
|
3
|
0 |
1
|
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
2
|
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
3
|
Genetic Services Laboratory,University of Chicago
|
0 |
0 |
2
|
0 |
0 |
2
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
1
|
0 |
1
|
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
0 |
2
|
0 |
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
1
|
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
1
|
Courtagen Diagnostics Laboratory,Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
Integrated Genetics/Laboratory Corporation of America
|
0 |
0 |
1
|
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
Lineagen, Inc
|
0 |
0 |
1
|
0 |
0 |
1
|
Fulgent Genetics,Fulgent Genetics
|
0 |
0 |
0 |
1
|
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
1
|
ISCA site 1
|
0 |
0 |
1
|
0 |
0 |
1
|
Service de Génétique Moléculaire,Hôpital Robert Debré
|
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Undiagnosed Diseases Network,NIH
|
1
|
0 |
0 |
0 |
0 |
1
|
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
Cavalleri Lab, Royal College of Surgeons in Ireland
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
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