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 |
58
|
31
|
806
|
414
|
56
|
8
|
1235
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
45
|
5
|
567
|
341
|
38
|
0 |
996
|
Ambry Genetics
|
2
|
3
|
201
|
84
|
0 |
0 |
290
|
GeneDx
|
3
|
5
|
70
|
65
|
32
|
0 |
175
|
Molecular Genetics Laboratory, London Health Sciences Centre
|
3
|
3
|
80
|
62
|
16
|
0 |
164
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
94
|
8
|
22
|
0 |
124
|
Athena Diagnostics Inc
|
5
|
0 |
41
|
6
|
21
|
0 |
73
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
2
|
18
|
26
|
0 |
0 |
49
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
7
|
22
|
2
|
0 |
32
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
0 |
15
|
6
|
9
|
0 |
31
|
Inherited Neuropathy Consortium
|
2
|
0 |
27
|
0 |
1
|
0 |
30
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
27
|
0 |
0 |
0 |
28
|
Genesis Genome Database
|
0 |
0 |
22
|
0 |
0 |
0 |
22
|
Revvity Omics, Revvity
|
3
|
1
|
9
|
0 |
0 |
0 |
13
|
Baylor Genetics
|
1
|
1
|
10
|
0 |
0 |
0 |
12
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
7
|
2
|
1
|
0 |
12
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
1
|
8
|
0 |
10
|
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
|
0 |
4
|
3
|
0 |
0 |
0 |
7
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
6
|
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
2
|
2
|
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
5
|
0 |
6
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Mendelics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Institute of Human Genetics, Cologne University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CMT Laboratory, Bogazici University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Claritas Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Ulm
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Centre for Translational Omics - GOSgene, University College London
|
1
|
0 |
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
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Section for Clinical Neurogenetics, University of Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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