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 |
11
|
9
|
3
|
0 |
0 |
22
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
ERF
|
11
|
9
|
3
|
22
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
OMIM
|
7
|
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
1
|
3
|
Baylor Genetics
|
0 |
1
|
1
|
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
2
|
0 |
2
|
3billion
|
2
|
0 |
0 |
2
|
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology
|
1
|
0 |
0 |
1
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
1
|
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
1
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
1
|
Hacettepe Pediatric Genetics Laboratory, Hacettepe University
|
1
|
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
0 |
1
|
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