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 |
11
|
22
|
170
|
20
|
36
|
249
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
TRPC6
|
11
|
22
|
170
|
20
|
36
|
249
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Fulgent Genetics, Fulgent Genetics
|
3
|
9
|
91
|
16
|
1
|
120
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
51
|
5
|
34
|
90
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
1
|
10
|
0 |
0 |
12
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
11
|
0 |
0 |
12
|
Precision Medicine Center, Zhengzhou University
|
0 |
5
|
2
|
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
3
|
0 |
0 |
5
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
4
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
3
|
3
|
3billion, Medical Genetics
|
0 |
1
|
2
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
2
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Molecular Biology Laboratory, Fundació Puigvert
|
1
|
1
|
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
1
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Eurofins-Biomnis
|
0 |
1
|
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
1
|
0 |
0 |
0 |
0 |
1
|
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