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 |
risk factor |
not provided |
total |
10
|
16
|
773
|
368
|
119
|
3
|
20
|
1165
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
4
|
0 |
618
|
309
|
54
|
0 |
0 |
985
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
3
|
92
|
28
|
14
|
0 |
0 |
137
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
23
|
54
|
0 |
0 |
123
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
4
|
41
|
33
|
10
|
0 |
0 |
88
|
GeneDx
|
1
|
1
|
29
|
0 |
36
|
0 |
0 |
67
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
20
|
20
|
26
|
0 |
0 |
66
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
15
|
23
|
10
|
0 |
0 |
48
|
Ambry Genetics
|
0 |
0 |
44
|
2
|
0 |
0 |
0 |
46
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
6
|
4
|
2
|
0 |
0 |
12
|
Revvity Omics, Revvity
|
0 |
3
|
8
|
0 |
0 |
0 |
0 |
11
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
11
|
0 |
0 |
11
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
10
|
0 |
0 |
0 |
0 |
10
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
4
|
3
|
0 |
0 |
8
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
5
|
0 |
0 |
7
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
1
|
0 |
6
|
Baylor Genetics
|
1
|
0 |
5
|
0 |
0 |
0 |
0 |
6
|
Human Evolutionary Genetics, Institut Pasteur
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
5
|
1
|
0 |
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
5
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
2
|
0 |
0 |
2
|
0 |
4
|
Blueprint Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
1
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. Guy Rouleau's laboratory, McGill University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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