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 |
|
131
|
101
|
141
|
410
|
26
|
16
|
754
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
112
|
31
|
77
|
408
|
25
|
0 |
653
|
|
Baylor Genetics
|
30
|
70
|
2
|
0 |
0 |
0 |
101
|
|
Illumina Laboratory Services, Illumina
|
3
|
0 |
61
|
2
|
7
|
0 |
73
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
15
|
15
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
8
|
4
|
0 |
0 |
0 |
0 |
12
|
|
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
3
|
5
|
0 |
0 |
0 |
11
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
2
|
1
|
3
|
0 |
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
4
|
0 |
2
|
0 |
6
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Department of Pediatrics, The First Affiliated Hospital, Jinan University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Central Laboratory, The First Affiliated Hospital, Jinan University
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Pars Genome Lab
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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