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 |
23
|
43
|
68
|
23
|
22
|
1
|
166
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
45
|
10
|
17
|
0 |
72
|
Natera, Inc.
|
3
|
3
|
15
|
13
|
16
|
0 |
50
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
14
|
32
|
0 |
0 |
0 |
0 |
46
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
Counsyl
|
0 |
2
|
2
|
0 |
1
|
0 |
5
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Elsea Laboratory, Baylor College of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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