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 |
41
|
52
|
898
|
1069
|
316
|
6
|
2285
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
28
|
34
|
756
|
1038
|
285
|
0 |
2141
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
128
|
45
|
99
|
0 |
273
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
5
|
19
|
0 |
24
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
4
|
13
|
0 |
17
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
12
|
5
|
0 |
17
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
2
|
12
|
1
|
0 |
0 |
15
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
2
|
2
|
2
|
1
|
0 |
0 |
7
|
Baylor Genetics
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Mendelics
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
3billion
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
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
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medical Genetics Clinic, Mersin Women and Children Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Liaoning Province Research Institute of Family Planning, China Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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