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 |
|
25
|
13
|
311
|
140
|
48
|
2
|
520
|
Gene and significance breakdown #
Total genes and gene combinations: 11
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
AMACR, C1QTNF3-AMACR
|
2
|
1
|
212
|
120
|
16
|
0 |
339
|
|
AKR1D1
|
8
|
7
|
73
|
11
|
20
|
0 |
115
|
|
HSD3B7
|
7
|
2
|
9
|
0 |
2
|
0 |
20
|
|
CYP7B1
|
3
|
1
|
9
|
0 |
1
|
2
|
16
|
|
ACOX2
|
4
|
2
|
3
|
2
|
2
|
0 |
11
|
|
AMACR, C1QTNF3-AMACR, SLC45A2
|
0 |
0 |
0 |
6
|
4
|
0 |
9
|
|
ABCD3
|
1
|
0 |
0 |
1
|
3
|
0 |
5
|
|
AMACR
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
AGXT2, AMACR, BRIX1, C1QTNF3, DNAJC21, PRLR, RAD1, RAI14, SLC45A2, TTC23L
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
AMACR, BRIX1, C1QTNF3, DNAJC21, RAD1, RAI14, TTC23L
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CYP7B1, LOC130000507
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
1
|
0 |
174
|
110
|
14
|
0 |
299
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
118
|
27
|
33
|
0 |
179
|
|
OMIM
|
18
|
0 |
0 |
0 |
0 |
0 |
18
|
|
Baylor Genetics
|
1
|
0 |
12
|
0 |
0 |
0 |
13
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
13
|
0 |
13
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
2
|
6
|
2
|
0 |
0 |
12
|
|
Revvity Omics, Revvity
|
1
|
2
|
4
|
0 |
0 |
0 |
7
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
2
|
2
|
0 |
0 |
0 |
7
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
3
|
3
|
0 |
0 |
0 |
6
|
|
Mendelics
|
0 |
1
|
2
|
0 |
2
|
0 |
5
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
0 |
1
|
1
|
0 |
3
|
|
3billion
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
New York Genome Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Valdecilla Biomedical Research Institute, Instituto de Salud Carlos III
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
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.