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 |
confers sensitivity |
risk factor |
uncertain risk allele |
not provided |
total |
|
12
|
6
|
2383
|
1395
|
236
|
1
|
2
|
1
|
117
|
3933
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
confers sensitivity |
risk factor |
uncertain risk allele |
not provided |
total |
|
Ambry Genetics
|
1
|
0 |
1926
|
1143
|
0 |
0 |
0 |
0 |
0 |
3070
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
3
|
1
|
425
|
264
|
88
|
0 |
0 |
0 |
0 |
781
|
|
GeneDx
|
3
|
0 |
67
|
72
|
160
|
0 |
0 |
0 |
0 |
302
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
82
|
38
|
43
|
0 |
0 |
0 |
0 |
163
|
|
GeneReviews
|
0 |
0 |
25
|
0 |
0 |
0 |
0 |
0 |
117
|
142
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
4
|
27
|
69
|
0 |
0 |
0 |
0 |
100
|
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
1
|
33
|
48
|
9
|
0 |
0 |
0 |
0 |
95
|
|
Fulgent Genetics, Fulgent Genetics
|
4
|
0 |
49
|
22
|
9
|
0 |
0 |
0 |
0 |
84
|
|
Athena Diagnostics
|
3
|
0 |
9
|
3
|
26
|
0 |
0 |
0 |
0 |
41
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
9
|
23
|
6
|
0 |
0 |
0 |
0 |
39
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
6
|
16
|
0 |
0 |
0 |
0 |
23
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
0 |
12
|
2
|
1
|
0 |
0 |
0 |
0 |
17
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
2
|
0 |
12
|
3
|
0 |
0 |
0 |
0 |
0 |
17
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
1
|
15
|
0 |
0 |
0 |
0 |
17
|
|
Mendelics
|
1
|
0 |
9
|
2
|
1
|
0 |
0 |
0 |
0 |
13
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
9
|
0 |
0 |
0 |
0 |
9
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
8
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
|
Revvity Omics, Revvity
|
1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
2
|
0 |
1
|
0 |
0 |
0 |
0 |
4
|
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
Neurogenetic Laboratory, Oslo University Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
Codex Genetics Limited
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
|
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
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 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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