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 |
|
45
|
19
|
291
|
234
|
58
|
635
|
Gene and significance breakdown #
Total genes and gene combinations: 8
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
XYLT1
|
17
|
2
|
159
|
168
|
32
|
378
|
|
CANT1
|
18
|
16
|
74
|
12
|
15
|
126
|
|
LOC102723692, XYLT1
|
5
|
0 |
36
|
41
|
9
|
88
|
|
LOC130058566, XYLT1
|
1
|
1
|
15
|
12
|
0 |
29
|
|
CANT1, LOC130061867
|
2
|
0 |
3
|
0 |
2
|
7
|
|
LOC130058565, XYLT1
|
0 |
0 |
3
|
1
|
0 |
4
|
|
ABCC1, ABCC6, CEP20, MYH11, NDE1, NOMO3, XYLT1
|
1
|
0 |
1
|
0 |
0 |
2
|
|
LOC102723692, LOC126862302, LOC129390772, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, XYLT1
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
13
|
1
|
209
|
222
|
39
|
484
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
69
|
12
|
17
|
99
|
|
OMIM
|
27
|
0 |
0 |
0 |
0 |
27
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
9
|
4
|
1
|
0 |
17
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
15
|
15
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
1
|
0 |
0 |
0 |
5
|
|
3billion
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Baylor Genetics
|
0 |
1
|
3
|
0 |
0 |
4
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
1
|
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Lifecell International Pvt. Ltd
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
2
|
|
CENTOGENE GmbH and LLC - Guiding Precision Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
0 |
1
|
1
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Zankl Lab, University of Sydney
|
1
|
0 |
0 |
0 |
0 |
1
|
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