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 |
224
|
62
|
48
|
27
|
18
|
1
|
369
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PHEX
|
141
|
30
|
22
|
18
|
10
|
0 |
215
|
PHEX, PTCHD1
|
74
|
27
|
14
|
4
|
7
|
0 |
122
|
CLCN5
|
3
|
5
|
7
|
5
|
1
|
1
|
21
|
CLCN5, LOC126863258
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
LOC130068043, PHEX, PTCHD1
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
CBLL2, PHEX, PTCHD1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CBLL2, LOC126863223, LOC126863224, LOC126863225, LOC126863226, PHEX, PTCHD1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
109
|
1
|
1
|
0 |
0 |
0 |
111
|
Mendelics
|
85
|
21
|
1
|
0 |
0 |
0 |
107
|
Fulgent Genetics, Fulgent Genetics
|
9
|
4
|
13
|
20
|
1
|
0 |
47
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
19
|
8
|
17
|
0 |
46
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
11
|
0 |
0 |
0 |
0 |
14
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
3billion
|
5
|
3
|
2
|
0 |
0 |
0 |
10
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
2
|
2
|
0 |
0 |
0 |
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
Baylor Genetics
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
MNM Diagnostics
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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