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 |
8
|
7
|
4
|
2
|
0 |
21
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
SUZ12
|
7
|
7
|
4
|
2
|
20
|
ASIC2, C17orf75, CDK5R1, COPRS, LRRC37B, MYO1D, PSMD11, RHBDL3, RHOT1, SPACA3, SUZ12, TMEM98, UTP6, ZNF207
|
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
OMIM
|
5
|
0 |
0 |
0 |
5
|
Mendelics
|
1
|
1
|
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
2
|
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
1
|
0 |
2
|
3billion
|
0 |
2
|
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
1
|
0 |
0 |
1
|
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
|
1
|
0 |
0 |
0 |
1
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
1
|
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