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 |
|
47
|
94
|
150
|
18
|
15
|
2
|
274
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Fulgent Genetics, Fulgent Genetics
|
11
|
28
|
47
|
7
|
0 |
0 |
93
|
|
Clinical Biochemistry Laboratory, Health Services Laboratory
|
37
|
34
|
15
|
0 |
0 |
0 |
86
|
|
Illumina Laboratory Services, Illumina
|
3
|
2
|
54
|
2
|
12
|
0 |
73
|
|
Natera, Inc.
|
7
|
3
|
26
|
8
|
5
|
0 |
49
|
|
Counsyl
|
1
|
12
|
14
|
0 |
0 |
0 |
27
|
|
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University
|
13
|
9
|
0 |
0 |
0 |
0 |
22
|
|
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic
|
1
|
10
|
7
|
0 |
0 |
0 |
18
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
7
|
2
|
0 |
0 |
0 |
0 |
9
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
3
|
2
|
1
|
0 |
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
2
|
3
|
0 |
5
|
|
Myriad Genetics, Inc.
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
3billion
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Thalassemia Center, San Luigi University Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Stanford Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Department of Urology, Hunan Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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