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 |
|
202
|
69
|
28
|
26
|
46
|
365
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
DNA-diagnostics Laboratory, Research Centre For Medical Genetics
|
122
|
50
|
1
|
1
|
0 |
174
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
19
|
21
|
16
|
56
|
|
Peking Union Medical College Hospital
|
24
|
10
|
1
|
0 |
0 |
35
|
|
CeMIA
|
0 |
1
|
0 |
4
|
30
|
35
|
|
Department of Immunology and Histocompatibility, University of Thessaly
|
28
|
3
|
1
|
0 |
0 |
32
|
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
16
|
|
Division of Rheumatology, Allergy and Immunology, UCSD
|
7
|
1
|
0 |
0 |
0 |
8
|
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
3
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
1
|
0 |
0 |
3
|
|
Central Haematology Laboratory, Luzerner Kantonsspital
|
2
|
0 |
1
|
0 |
0 |
3
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
2
|
0 |
0 |
3
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
2
|
|
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
|
ITMI
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genatak
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Bioserve Biotechnologies India Pvt Ltd
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.