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 |
2
|
2
|
1008
|
708
|
105
|
4
|
1643
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
0 |
0 |
592
|
429
|
47
|
0 |
1068
|
Ambry Genetics
|
0 |
0 |
507
|
409
|
22
|
0 |
937
|
GeneDx
|
0 |
0 |
179
|
116
|
64
|
0 |
359
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
56
|
14
|
1
|
0 |
71
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
35
|
20
|
10
|
0 |
65
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
5
|
37
|
9
|
0 |
51
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
6
|
11
|
28
|
0 |
45
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
5
|
25
|
13
|
0 |
43
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
6
|
3
|
13
|
0 |
22
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
21
|
0 |
0 |
0 |
21
|
Mendelics
|
0 |
0 |
6
|
4
|
2
|
0 |
12
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
3
|
0 |
5
|
0 |
8
|
Revvity Omics, Revvity
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
MGZ Medical Genetics Center
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
4
|
0 |
5
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
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.