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 |
3
|
0 |
1
|
5
|
4
|
3
|
9
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GeneDx
|
0 |
0 |
3
|
2
|
0 |
5
|
OMIM
|
3
|
0 |
0 |
1
|
0 |
4
|
Athena Diagnostics Inc
|
2
|
0 |
1
|
1
|
0 |
4
|
PreventionGenetics, part of Exact Sciences
|
2
|
0 |
0 |
2
|
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
3
|
3
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
2
|
0 |
1
|
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
1
|
2
|
Invitae
|
2
|
0 |
0 |
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
1
|
1
|
0 |
0 |
0 |
2
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
2
|
0 |
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
1
|
0 |
2
|
Myriad Genetics, Inc.
|
2
|
0 |
0 |
0 |
0 |
2
|
Lifecell International Pvt. Ltd
|
2
|
0 |
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
1
|
0 |
1
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Medical University Innsbruck
|
0 |
0 |
0 |
1
|
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
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.