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 |
85
|
40
|
308
|
410
|
65
|
1
|
827
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
75
|
20
|
220
|
358
|
31
|
0 |
704
|
GeneDx
|
5
|
3
|
18
|
46
|
47
|
0 |
119
|
Genome-Nilou Lab
|
5
|
10
|
48
|
8
|
12
|
0 |
83
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
60
|
5
|
16
|
0 |
65
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
0 |
12
|
9
|
16
|
0 |
39
|
PreventionGenetics, part of Exact Sciences
|
2
|
1
|
4
|
22
|
3
|
0 |
32
|
Ambry Genetics
|
0 |
0 |
29
|
1
|
0 |
0 |
30
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
1
|
2
|
13
|
5
|
7
|
0 |
28
|
Eurofins Ntd Llc (ga)
|
3
|
0 |
11
|
4
|
2
|
0 |
20
|
Fulgent Genetics, Fulgent Genetics
|
2
|
1
|
10
|
2
|
0 |
0 |
15
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
6
|
1
|
0 |
0 |
7
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
2
|
2
|
0 |
0 |
5
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Paediatric Orthopaedics Research Lab, Christian Medical College
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Medical Genetics, Spectrum Health
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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