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 |
not provided |
total |
19
|
12
|
11
|
0 |
7
|
11
|
49
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
GeneReviews
|
1
|
0 |
0 |
0 |
11
|
12
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
11
|
Taipei Veterans General Hospital, Neurological Institute
|
3
|
4
|
0 |
0 |
0 |
7
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
4
|
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
0 |
4
|
3billion
|
2
|
1
|
1
|
0 |
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
3
|
0 |
3
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
2
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
2
|
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Clinical Laboratory, Peking University People's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
1
|
Istanbul Faculty of Medicine, Istanbul University
|
0 |
1
|
0 |
0 |
0 |
1
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Clinical Genetics Service, Universitary Hospital 12 de Octubre
|
0 |
1
|
0 |
0 |
0 |
1
|
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