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 |
total |
84
|
65
|
565
|
242
|
39
|
927
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
60
|
22
|
389
|
224
|
26
|
721
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
141
|
10
|
13
|
164
|
Ambry Genetics
|
0 |
0 |
44
|
1
|
0 |
45
|
Blueprint Genetics
|
6
|
19
|
17
|
0 |
0 |
42
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
14
|
1
|
1
|
18
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
2
|
10
|
5
|
0 |
17
|
GeneDx
|
2
|
4
|
8
|
0 |
2
|
16
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
8
|
0 |
0 |
0 |
0 |
8
|
Clinical Genetics, Academic Medical Center
|
3
|
0 |
2
|
0 |
3
|
8
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
4
|
0 |
1
|
0 |
3
|
8
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
3
|
0 |
1
|
2
|
1
|
7
|
Faculty of Health Sciences, Beirut Arab University
|
7
|
0 |
0 |
0 |
0 |
7
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
4
|
0 |
1
|
0 |
5
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
4
|
0 |
0 |
0 |
5
|
Revvity Omics, Revvity Omics
|
0 |
2
|
2
|
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
2
|
0 |
0 |
4
|
DBGen Ocular Genomics
|
4
|
0 |
0 |
0 |
0 |
4
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
2
|
1
|
0 |
0 |
3
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
1
|
0 |
3
|
MGZ Medical Genetics Center
|
0 |
2
|
1
|
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
0 |
1
|
3
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
3
|
0 |
0 |
0 |
3
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
1
|
0 |
0 |
0 |
3
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
2
|
1
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
3
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
1
|
1
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
1
|
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
1
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Genetics, Fundacion Jimenez Diaz University Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
1
|
0 |
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
0 |
0 |
1
|
0 |
0 |
1
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
0 |
0 |
1
|
0 |
0 |
1
|
Medical Retina And Imaging, Irccs Ospedale San Raffaele
|
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
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
professional.