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 |
7
|
10
|
591
|
662
|
138
|
2
|
1267
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
3
|
1
|
434
|
562
|
58
|
0 |
1058
|
GeneDx
|
3
|
1
|
76
|
102
|
96
|
0 |
278
|
Ambry Genetics
|
0 |
0 |
69
|
41
|
0 |
0 |
110
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
34
|
17
|
52
|
0 |
103
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
19
|
32
|
5
|
0 |
57
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
7
|
14
|
14
|
0 |
35
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
21
|
3
|
4
|
0 |
28
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
8
|
15
|
0 |
24
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
17
|
6
|
1
|
0 |
24
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
14
|
8
|
0 |
23
|
Preventiongenetics, part of Exact Sciences
|
0 |
0 |
4
|
6
|
8
|
0 |
18
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
15
|
0 |
0 |
0 |
15
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
10
|
0 |
0 |
11
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
8
|
2
|
0 |
10
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Revvity Omics, Revvity Omics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Inherited Neuropathy Consortium
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Athena Diagnostics Inc
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology Laboratory, Hudson Institute of Medical Research
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Developmental Genetics, Institut Pasteur
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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