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 |
|
42
|
69
|
123
|
18
|
15
|
2
|
229
|
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 |
|
Clinical Biochemistry Laboratory, Health Services Laboratory
|
37
|
34
|
15
|
0 |
0 |
0 |
86
|
|
Illumina Laboratory Services, Illumina
|
3
|
2
|
55
|
2
|
12
|
0 |
74
|
|
Natera, Inc.
|
7
|
3
|
26
|
8
|
5
|
0 |
49
|
|
Fulgent Genetics, Fulgent Genetics
|
5
|
7
|
16
|
6
|
0 |
0 |
34
|
|
Counsyl
|
1
|
12
|
14
|
0 |
0 |
0 |
27
|
|
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic
|
1
|
10
|
7
|
0 |
0 |
0 |
18
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
6
|
2
|
0 |
0 |
0 |
0 |
8
|
|
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
|
|
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
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
2
|
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
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Thalassemia Center, San Luigi University Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Urology, Hunan Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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