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 |
16
|
7
|
40
|
45
|
29
|
131
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
7
|
0 |
26
|
39
|
11
|
83
|
GeneDx
|
1
|
0 |
2
|
0 |
18
|
21
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
5
|
5
|
0 |
12
|
Ambry Genetics
|
0 |
0 |
9
|
0 |
0 |
9
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
3
|
2
|
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Sema4, Sema4
|
0 |
0 |
0 |
2
|
2
|
4
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
3
|
1
|
4
|
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University
|
2
|
2
|
0 |
0 |
0 |
4
|
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg
|
0 |
2
|
2
|
0 |
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
1
|
1
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
0 |
1
|
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
1
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
1
|
0 |
0 |
1
|
Medical Molecular Genetics, National Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Wang Lab, School of Dentistry, National Taiwan University
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
1
|
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