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 |
13
|
7
|
24
|
1
|
2
|
47
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Revvity Omics, Revvity
|
0 |
1
|
8
|
0 |
0 |
9
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
3
|
0 |
0 |
4
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
3
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
1
|
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
1
|
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
0 |
1
|
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
0 |
1
|
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
0 |
1
|
0 |
1
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
1
|
0 |
0 |
0 |
0 |
1
|
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