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 |
4
|
7
|
19
|
0 |
3
|
33
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
TCAP
|
4
|
7
|
19
|
3
|
33
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
16
|
3
|
19
|
OMIM
|
2
|
0 |
0 |
0 |
2
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
1
|
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
0 |
0 |
2
|
Evolutionary and Medical Genetics Laboratory, Center for Cellular and Molecular Biology
|
0 |
1
|
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
0 |
0 |
1
|
Tehran Medical Genetics Laboratory
|
0 |
1
|
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
1
|
3billion, Medical Genetics
|
0 |
1
|
0 |
0 |
1
|
DASA
|
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.