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 |
|
6
|
12
|
43
|
7
|
21
|
84
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
SPTBN2
|
6
|
12
|
43
|
7
|
21
|
84
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
5
|
4
|
11
|
20
|
|
Baylor Genetics
|
0 |
2
|
5
|
0 |
0 |
7
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
7
|
0 |
0 |
7
|
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
5
|
5
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
|
MGZ Medical Genetics Center
|
0 |
0 |
4
|
0 |
0 |
4
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
4
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
4
|
0 |
0 |
4
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
1
|
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
1
|
3
|
|
O&I group, Department of Genetics, University Medical Center of Groningen
|
0 |
0 |
3
|
0 |
0 |
3
|
|
3billion
|
1
|
1
|
1
|
0 |
0 |
3
|
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
1
|
0 |
2
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
1
|
0 |
2
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
1
|
0 |
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DECIPHERD-UDD, Universidad del Desarrollo
|
0 |
0 |
1
|
0 |
0 |
1
|
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