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 |
|
39
|
19
|
13
|
4
|
12
|
8
|
89
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
6
|
8
|
2
|
0 |
0 |
0 |
16
|
|
Pars Genome Lab
|
0 |
0 |
0 |
3
|
12
|
0 |
15
|
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
7
|
2
|
1
|
0 |
0 |
0 |
10
|
|
Genome-Nilou Lab
|
1
|
0 |
4
|
1
|
3
|
0 |
9
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
2
|
2
|
0 |
0 |
0 |
7
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
Baylor Genetics
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
|
Mendelics
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
|
Counsyl
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect - GM1
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Biological Sciences, International Islamic University, Islamabad
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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