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
|
13
|
117
|
10
|
25
|
9
|
181
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
97
|
8
|
23
|
0 |
128
|
|
Baylor Genetics
|
1
|
1
|
9
|
0 |
0 |
0 |
11
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
10
|
0 |
0 |
0 |
11
|
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
2
|
2
|
0 |
6
|
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
3billion
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Next Generation Genetic Polyclinic
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
CMT Laboratory, Bogazici University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, Cologne University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Variantyx, Inc.
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Institute of Human Genetics, University of Ulm
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Section for Clinical Neurogenetics, University of Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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