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 |
12
|
11
|
23
|
7
|
6
|
56
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
WDR73
|
12
|
11
|
20
|
7
|
3
|
50
|
ZNF592
|
0 |
0 |
3
|
0 |
2
|
5
|
ENG
|
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
8
|
6
|
0 |
14
|
OMIM
|
9
|
0 |
1
|
0 |
0 |
10
|
Revvity Omics, Revvity
|
1
|
1
|
7
|
0 |
0 |
9
|
Baylor Genetics
|
0 |
1
|
4
|
0 |
0 |
5
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
3
|
0 |
0 |
0 |
0 |
3
|
3billion
|
0 |
1
|
1
|
1
|
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
2
|
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
2
|
0 |
0 |
0 |
2
|
Mendelics
|
0 |
1
|
0 |
0 |
1
|
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
1
|
2
|
Human Genetics Laboratory, Faculty of Medicine of Tunis
|
0 |
2
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
1
|
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