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 |
total |
29
|
12
|
173
|
164
|
32
|
383
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
23
|
7
|
134
|
141
|
10
|
315
|
Ambry Genetics
|
3
|
0 |
45
|
30
|
7
|
85
|
GeneDx
|
0 |
0 |
3
|
8
|
17
|
28
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
16
|
4
|
22
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
4
|
3
|
2
|
9
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
3
|
2
|
6
|
Revvity Omics, Revvity
|
0 |
2
|
4
|
0 |
0 |
6
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
5
|
0 |
1
|
6
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
3
|
0 |
0 |
5
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
4
|
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
1
|
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
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.