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 |
|
30
|
24
|
20
|
1
|
7
|
2
|
69
|
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 |
|
Mendelics
|
8
|
6
|
0 |
0 |
0 |
0 |
14
|
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
|
Revvity Omics, Revvity
|
1
|
5
|
6
|
0 |
0 |
0 |
12
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
6
|
2
|
0 |
0 |
0 |
11
|
|
Baylor Genetics
|
4
|
2
|
4
|
0 |
0 |
0 |
10
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
7
|
2
|
0 |
0 |
0 |
0 |
9
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
0 |
0 |
0 |
3
|
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
1
|
1
|
0 |
0 |
4
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
3billion
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Elsea Laboratory, Baylor College of Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Kids Research, The Children's Hospital at Westmead
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Istanbul Faculty of Medicine, Istanbul University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Hadassah Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
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,
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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