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 |
21
|
13
|
5
|
0 |
2
|
41
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OFD1
|
21
|
13
|
4
|
2
|
40
|
TMEM17
|
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
3
|
5
|
0 |
0 |
8
|
OMIM
|
6
|
0 |
0 |
0 |
6
|
3billion
|
1
|
2
|
0 |
0 |
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
1
|
0 |
2
|
GeneReviews
|
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
2
|
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
1
|
Invitae
|
0 |
0 |
1
|
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
1
|
0 |
0 |
0 |
1
|
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences
|
0 |
1
|
0 |
0 |
1
|
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