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 |
|
64
|
21
|
1404
|
828
|
196
|
43
|
2364
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
38
|
11
|
1048
|
709
|
68
|
0 |
1874
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
3
|
320
|
61
|
6
|
0 |
391
|
|
Ambry Genetics
|
6
|
0 |
201
|
41
|
0 |
0 |
248
|
|
GeneDx
|
3
|
2
|
57
|
57
|
90
|
0 |
209
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
79
|
16
|
102
|
0 |
197
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
51
|
24
|
40
|
0 |
115
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
8
|
37
|
54
|
0 |
99
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
40
|
45
|
1
|
0 |
86
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
21
|
21
|
16
|
0 |
58
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
25
|
31
|
0 |
0 |
57
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
14
|
19
|
17
|
0 |
50
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
35
|
35
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
7
|
23
|
0 |
31
|
|
Athena Diagnostics
|
0 |
0 |
3
|
0 |
21
|
0 |
24
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
12
|
2
|
6
|
0 |
20
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
18
|
0 |
18
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
16
|
1
|
0 |
0 |
17
|
|
Institute of Human Genetics, University Hospital Jena
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
1
|
0 |
14
|
0 |
16
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
7
|
6
|
0 |
13
|
|
OMIM
|
10
|
0 |
2
|
0 |
0 |
0 |
12
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
6
|
1
|
0 |
8
|
|
Baylor Genetics
|
0 |
1
|
6
|
0 |
0 |
0 |
7
|
|
Revvity Omics, Revvity
|
0 |
1
|
6
|
0 |
0 |
0 |
7
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
1
|
3
|
0 |
0 |
6
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Inherited Neuropathy Consortium
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
1
|
0 |
0 |
1
|
3
|
0 |
5
|
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Neurology, Hospital Garcia de Orta
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Pediatrics, GMC Srinagar, Government Medical College Srinagar
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
MVZ Martinsried, Medicover Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
NHS Central & South Genomic Laboratory Hub
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
OLLIN Analises Genomicas, OLLIN
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Precision Medicine Center, Zhengzhou University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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