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 |
risk factor |
not provided |
total |
23
|
25
|
290
|
126
|
169
|
21
|
1
|
620
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
1
|
152
|
51
|
163
|
0 |
0 |
367
|
Fulgent Genetics, Fulgent Genetics
|
6
|
6
|
95
|
81
|
6
|
0 |
0 |
194
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
8
|
6
|
16
|
0 |
0 |
0 |
0 |
30
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
21
|
0 |
21
|
MVZ Medizinische Genetik Mainz
|
5
|
3
|
9
|
0 |
0 |
0 |
0 |
17
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
9
|
1
|
0 |
0 |
0 |
10
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
2
|
5
|
0 |
0 |
0 |
0 |
8
|
Baylor Genetics
|
0 |
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Mendelics
|
0 |
1
|
2
|
1
|
2
|
0 |
0 |
6
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
John Atkinson Laboratory, Washington University School of Medicine in St. Louis
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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