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 |
association not found |
not provided |
total |
222
|
206
|
409
|
406
|
57
|
2
|
10
|
1118
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association not found |
not provided |
total |
GALNS
|
189
|
189
|
354
|
338
|
41
|
1
|
9
|
946
|
GALNS, LOC130059762, TRAPPC2L
|
17
|
7
|
31
|
38
|
2
|
0 |
1
|
88
|
GALNS, LOC126862447
|
11
|
9
|
22
|
30
|
6
|
1
|
0 |
68
|
APRT, GALNS
|
0 |
0 |
1
|
0 |
8
|
0 |
0 |
9
|
APRT, CDT1, GALNS, LOC126862447, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, PIEZO1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
GALNS, LOC126862447, LOC130059761, LOC130059762, LOC132090440, TRAPPC2L
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
APRT, CDT1, GALNS, PIEZO1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
APRT, GALNS, LOC126862447, LOC130059760
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IDUA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association not found |
not provided |
total |
Invitae
|
159
|
53
|
98
|
391
|
41
|
0 |
0 |
742
|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova
|
75
|
106
|
253
|
1
|
4
|
0 |
0 |
439
|
Genome-Nilou Lab
|
29
|
34
|
26
|
13
|
34
|
0 |
0 |
136
|
Illumina Laboratory Services, Illumina
|
1
|
3
|
61
|
9
|
27
|
0 |
0 |
101
|
Revvity Omics, Revvity Omics
|
17
|
10
|
20
|
0 |
0 |
0 |
0 |
47
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
11
|
14
|
2
|
0 |
0 |
0 |
0 |
27
|
Fulgent Genetics, Fulgent Genetics
|
6
|
5
|
6
|
1
|
2
|
0 |
0 |
20
|
OMIM
|
18
|
0 |
0 |
0 |
0 |
0 |
0 |
18
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
6
|
5
|
1
|
0 |
0 |
0 |
0 |
12
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
5
|
5
|
0 |
0 |
0 |
0 |
12
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
10
|
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital
|
6
|
4
|
0 |
0 |
0 |
0 |
0 |
10
|
Mendelics
|
3
|
4
|
0 |
0 |
2
|
0 |
0 |
9
|
3billion
|
5
|
2
|
1
|
0 |
0 |
0 |
0 |
8
|
Centogene AG - the Rare Disease Company
|
4
|
1
|
1
|
0 |
0 |
0 |
0 |
6
|
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University
|
2
|
0 |
1
|
0 |
0 |
2
|
0 |
5
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
2
|
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
0 |
0 |
2
|
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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