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 |
79
|
109
|
200
|
227
|
30
|
2
|
539
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
57
|
25
|
29
|
214
|
10
|
0 |
335
|
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
|
57
|
3
|
11
|
0 |
76
|
Natera, Inc.
|
7
|
3
|
26
|
8
|
5
|
0 |
49
|
Ambry Genetics
|
0 |
0 |
33
|
0 |
0 |
0 |
33
|
Counsyl
|
1
|
12
|
14
|
0 |
0 |
0 |
27
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
7
|
17
|
0 |
27
|
GeneDx
|
4
|
0 |
2
|
5
|
15
|
0 |
26
|
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
|
9
|
0 |
0 |
0 |
18
|
Revvity Omics, Revvity
|
4
|
4
|
5
|
0 |
0 |
0 |
13
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
PreventionGenetics, part of Exact Sciences
|
2
|
1
|
1
|
2
|
1
|
0 |
7
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
4
|
1
|
0 |
0 |
0 |
6
|
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
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Myriad Genetics, Inc.
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
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
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
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
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Eurofins Ntd Llc (ga)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
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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