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 |
|
44
|
70
|
89
|
11
|
10
|
2
|
194
|
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 |
|
Counsyl
|
10
|
62
|
41
|
0 |
0 |
0 |
113
|
|
Illumina Clinical Services Laboratory,Illumina
|
4
|
3
|
41
|
10
|
5
|
0 |
63
|
|
Invitae
|
21
|
7
|
7
|
0 |
2
|
0 |
37
|
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
0 |
21
|
|
Fulgent Genetics,Fulgent Genetics
|
9
|
3
|
7
|
0 |
0 |
0 |
19
|
|
Integrated Genetics/Laboratory Corporation of America
|
12
|
3
|
0 |
0 |
0 |
0 |
15
|
|
GeneReviews
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Genome Diagnostics Laboratory,University Medical Center Utrecht
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
|
Division of Human Genetics,Children's Hospital of Philadelphia
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
|
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
|
2
|
0 |
0 |
1
|
0 |
0 |
3
|
|
Institute of Human Genetics,Klinikum rechts der Isar
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Center of Genomic medicine, Geneva,University Hospital of Geneva
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Biochemistry Laboratory of CDMU,Chengde Medical University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Courtagen Diagnostics Laboratory,Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories,Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Hadassah Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Reproductive Health Research and Development,BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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