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 |
129
|
118
|
374
|
479
|
45
|
1016
|
Gene and significance breakdown #
Total genes and gene combinations: 10
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
SGSH
|
116
|
114
|
356
|
443
|
39
|
943
|
IDS, LOC106050102
|
0 |
0 |
5
|
18
|
6
|
29
|
LOC130061900, SGSH
|
4
|
3
|
6
|
9
|
0 |
19
|
IDS
|
1
|
0 |
5
|
8
|
0 |
14
|
GNPTAB
|
6
|
0 |
0 |
0 |
0 |
6
|
CARD14, EIF4A3, RNF213, SGSH, SLC26A11
|
0 |
0 |
1
|
0 |
0 |
1
|
CARD14, SGSH
|
1
|
1
|
0 |
0 |
0 |
1
|
IDS, LOC130068781
|
0 |
0 |
0 |
1
|
0 |
1
|
RNF213, SGSH, SLC26A11
|
0 |
0 |
1
|
0 |
0 |
1
|
SGSH, SLC26A11
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
110
|
33
|
250
|
444
|
24
|
861
|
Genome-Nilou Lab
|
19
|
18
|
93
|
17
|
19
|
166
|
Natera, Inc.
|
19
|
3
|
58
|
49
|
19
|
148
|
Illumina Laboratory Services, Illumina
|
3
|
1
|
72
|
1
|
14
|
91
|
Baylor Genetics
|
34
|
43
|
1
|
0 |
0 |
78
|
Counsyl
|
6
|
31
|
24
|
0 |
1
|
62
|
Fulgent Genetics, Fulgent Genetics
|
9
|
8
|
9
|
1
|
0 |
27
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
19
|
7
|
0 |
0 |
0 |
26
|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova
|
3
|
9
|
2
|
0 |
0 |
14
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
13
|
Myriad Genetics, Inc.
|
3
|
8
|
1
|
0 |
0 |
12
|
Revvity Omics, Revvity Omics
|
4
|
1
|
5
|
0 |
0 |
10
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
3
|
5
|
1
|
0 |
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
6
|
0 |
0 |
0 |
3
|
9
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
6
|
0 |
0 |
0 |
2
|
8
|
GeneReviews
|
6
|
0 |
0 |
0 |
0 |
6
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
5
|
1
|
0 |
0 |
0 |
6
|
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University
|
3
|
1
|
1
|
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
3
|
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
2
|
0 |
0 |
0 |
4
|
Genomics England Pilot Project, Genomics England
|
3
|
1
|
0 |
0 |
0 |
4
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
3
|
0 |
0 |
0 |
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
0 |
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
1
|
0 |
0 |
3
|
Undiagnosed Diseases Network, NIH
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
1
|
Center for Medical Genetics, GenVams Trust
|
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
1
|
Section for Clinical Neurogenetics, University of Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
1
|
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