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 |
|
23
|
16
|
181
|
149
|
37
|
1
|
362
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
12
|
6
|
102
|
123
|
24
|
0 |
267
|
|
Ambry Genetics
|
0 |
4
|
59
|
6
|
0 |
0 |
69
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
35
|
7
|
11
|
0 |
54
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
15
|
10
|
7
|
0 |
34
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
1
|
6
|
18
|
0 |
25
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
1
|
10
|
3
|
0 |
16
|
|
GeneDx
|
0 |
1
|
0 |
0 |
14
|
0 |
15
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
10
|
1
|
0 |
11
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
|
Baylor Genetics
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
0 |
3
|
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
|
Bicknell laboratory, University of Otago
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
3billion
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
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.