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 |
29
|
33
|
77
|
23
|
41
|
2
|
191
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
HNF4A
|
28
|
33
|
76
|
23
|
41
|
2
|
189
|
GCK
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HNF1A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
57
|
17
|
40
|
0 |
114
|
Geisinger Clinic, Geisinger Health System
|
12
|
9
|
0 |
0 |
0 |
0 |
21
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
8
|
2
|
7
|
1
|
2
|
20
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Exeter Molecular Genetics Laboratory
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
Translational Genomics Laboratory, University of Maryland School of Medicine
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Institute of Monogenic Disease, School of Medicine, Huanghuai University
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Experimental Endocrinology, Slovak Academy of Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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