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 |
6
|
4
|
22
|
0 |
1
|
32
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
SETD1A
|
6
|
4
|
22
|
1
|
32
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
New York Genome Center
|
0 |
0 |
9
|
0 |
9
|
OMIM
|
4
|
0 |
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
4
|
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
3
|
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
1
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
1
|
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
1
|
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
|
0 |
1
|
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
1
|
3billion
|
0 |
0 |
1
|
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
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.