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 |
202
|
453
|
2251
|
336
|
362
|
31
|
3372
|
Gene and significance breakdown #
Total genes and gene combinations: 15
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Natera, Inc.
|
75
|
27
|
1307
|
171
|
200
|
0 |
1780
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
677
|
94
|
143
|
0 |
914
|
Counsyl
|
27
|
190
|
358
|
37
|
1
|
0 |
613
|
Fulgent Genetics, Fulgent Genetics
|
33
|
23
|
209
|
32
|
15
|
0 |
312
|
Genome-Nilou Lab
|
0 |
1
|
76
|
34
|
181
|
0 |
292
|
Myriad Genetics, Inc.
|
4
|
140
|
14
|
0 |
0 |
0 |
158
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
18
|
20
|
28
|
0 |
0 |
0 |
66
|
OMIM
|
40
|
0 |
3
|
0 |
0 |
0 |
43
|
GeneReviews
|
2
|
6
|
0 |
0 |
0 |
25
|
32
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
13
|
0 |
0 |
0 |
0 |
25
|
Baylor Genetics
|
9
|
8
|
4
|
1
|
0 |
0 |
19
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
16
|
3
|
0 |
0 |
0 |
0 |
19
|
3billion
|
7
|
5
|
4
|
0 |
0 |
0 |
16
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
2
|
1
|
11
|
0 |
0 |
0 |
14
|
Pars Genome Lab
|
1
|
0 |
7
|
4
|
2
|
0 |
14
|
Mendelics
|
3
|
1
|
2
|
0 |
5
|
0 |
11
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
7
|
0 |
0 |
0 |
9
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
5
|
2
|
0 |
0 |
0 |
8
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
6
|
2
|
0 |
0 |
0 |
0 |
8
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
6
|
0 |
0 |
0 |
0 |
8
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
1
|
5
|
0 |
0 |
0 |
8
|
King Laboratory, University of Washington
|
4
|
3
|
0 |
0 |
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
5
|
1
|
1
|
0 |
0 |
0 |
7
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
DBGen Ocular Genomics
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
New York Genome Center
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
Molecular Genetics Laboratory; Baylor College of Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Centre de Biotechnologie de Sfax, Université de Sfax
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Institute of Human Genetics, Cologne University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
ClinGen Hearing Loss Variant Curation Expert Panel
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
INGEBI, INGEBI / CONICET
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Biochemistry Laboratory of CDMU, Chengde Medical University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Program, Stanford Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Refractive Surgery Department, Bright Eye Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Hereditary Research Laboratory, Bethlehem University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of biochemistry and genetics, Arak University of Medical sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Key Research Laboratory of Chronic Disease Prevention and Treatment Mechanism of Integrated Traditional Chinese and Western Medicine, Changchun University of Chinese Medicine
|
1
|
0 |
0 |
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.