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 |
affects |
not provided |
total |
66
|
82
|
798
|
585
|
312
|
4
|
3
|
1671
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
not provided |
total |
Invitae
|
50
|
16
|
462
|
407
|
138
|
0 |
0 |
1073
|
GeneDx
|
3
|
3
|
45
|
127
|
213
|
0 |
0 |
391
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
231
|
34
|
76
|
0 |
0 |
341
|
Fulgent Genetics, Fulgent Genetics
|
8
|
11
|
126
|
43
|
2
|
0 |
0 |
190
|
Ambry Genetics
|
1
|
0 |
138
|
14
|
0 |
0 |
0 |
153
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
1
|
16
|
5
|
28
|
0 |
0 |
52
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
2
|
14
|
18
|
2
|
0 |
0 |
36
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
27
|
0 |
0 |
0 |
0 |
0 |
27
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
25
|
0 |
0 |
25
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
3
|
10
|
10
|
0 |
0 |
0 |
0 |
23
|
Revvity Omics, Revvity Omics
|
7
|
3
|
9
|
0 |
0 |
0 |
0 |
19
|
Preventiongenetics, part of Exact Sciences
|
1
|
2
|
9
|
0 |
0 |
0 |
0 |
12
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
1
|
6
|
4
|
0 |
0 |
12
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
6
|
3
|
0 |
0 |
0 |
11
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
10
|
0 |
0 |
0 |
0 |
11
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
4
|
0 |
10
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
6
|
3
|
0 |
0 |
9
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
4
|
0 |
0 |
0 |
0 |
7
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
7
|
0 |
0 |
0 |
0 |
7
|
Baylor Genetics
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
2
|
0 |
0 |
2
|
0 |
0 |
5
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
4
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Molecular Biology Laboratory, Fundació Puigvert
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
3billion
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
4
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Eurofins-Biomnis
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
2
|
0 |
0 |
3
|
Athena Diagnostics Inc
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Richard Lifton Laboratory, Yale University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Inserm U 954, Faculté de Médecine de Nancy
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatric Nephrology, Wuhan Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Gene Friend Way, National Innovation Center
|
0 |
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.